Case#: Sporadic RP Patient 087, male, Chinese, 30yo at report

DiseaseAssertion: RP

FamilyInfo: n/a, sporadic case

CasePresentingHPOs:

CaseHPOFreeText: "The sporadic RP patients generally showed pubertal night blindness, restricted peripheral vision, progressive vision loss, overall bone-spicule pigmentation of the retina, attenuation of retinal vessels, and the flattening of the rod and cone ERG responses."

CaseNotHPOs:

CaseNotHPOFreeText:

GenotypingMethod: WES with Sanger sequencing confirmation

PreviouslyPublished: no

Variant: c.6397T>C p.(C2133R)

ClinVar: 2021273

CAID: CA341277387

SupplementalData:

Case#: Sporadic Patient #4, female, Chinese, 30yo at report

DiseaseAssertion: STGD

FamilyInfo: n/a, sporadic case

CasePresentingHPOs:

CaseHPOFreeText:

CaseNotHPOs:

CaseNotHPOFreeText:

GenotypingMethod: WES with Sanger sequencing confirmation

PreviouslyPublished: no

Variant: c.4555delA p.(T1519Rfs*5); c.6397T>C p.(C2133R)

ClinVar: 2021273; 2733921

CAID: CA341277387; CA645372203

SupplementalData:

Article is a PDF, so annotating here.

ClinVar assertion listed this paper; however looking at the genotype table, none of the variants appear to match the variant in question.

This variant is listed for Stargardt DNAID#070949 in trans with c.3682G>A p.(Glu1228Lys). No phenotype information provided.