c.1195_1197delGAG p.E399del
this variant is mentioned but only as a variant from infants diagnosed through NBS for MPS1, does not appear to have been confirmed so no functional studies were performed- VUS defined by ACMG. no case level or experimental evidence provided.
Amongst the 2181 suspected patients, 285 (13%) were biochemically diagnosed. Of these, 22.5% (64/285) diagnosed with Pompe disease harboured c.1933G>A, c.1A>G, c.1927G>A and c.2783G>C as common and 10 novel pathogenic variants while 7.4% (21/285) patients diagnosed with Fabry disease carried c.851T>C, c.902G>A, c.905A>C and c.1212_1234del as frequent disease-causing variants along with 7 novel pathogenic variants. As many as 48.4% (138/285) patients were diagnosed with Gaucher disease and had c.1448T>C as the most common pathogenic variant followed by c.1342G>C and c.754T>C with 7 previously unreported disease-causing variants and in the 21.7% (62/285) diagnosed cases of Hurler disease, c.1469T>C, c.754delC c.568_581del and c.1898C>T were identified as the most common causative variants along with 21 novel pathogenic variants.
paper provided by LD VCEP for this variant. annotating here since the paper is a PDF provided by the library.
Case#: Thomas P61, 1yo, male, Indian
DiseaseAssertion: Hurler
FamilyInfo: n/a
CasePresentingHPOs: HP:0000280, HP:0001433, HP:0007957, HP:0002719, HP:0001249
CaseHPOFreeText: 2.5% residual IDUA activity on DBS
CaseNotHPOs:
CaseNotHPOFreeText:
PreviouslyPublished: n/a
Variant: c.1195_1197del (p.Glu399del); c.1249_1275del (p.Thr417_His425fs*55)
ClinVar: 2498386; 556156
CAID: CA549264677; CA658823291
SupplementalData: n/a