Family-12COQ5c.367 C > Tp.(Arg123Trp)0.00003266Disease causingVUS (PM2, PP3)–This studyc.682-7 T > Gp.(Gln230*); p.(Leu193Phefs*27)0.001434See suppl. Table 1VUS (PM2, PM3, BP4)–This study
Case: Family 12 Proband, 5yo at onset, 38yo at report
CasePresentingHPOs:
CasePresentingHPOsFreeText: Muscle weakness (hyposthenia), followed by vision problems in the dark (14), BCVA=6/18, 6/7.5, retinitis pigmentosa, nystagmus, infantile appearance, hypertelorism, undeveloped fertile function, constricted visual field
CaseNOTHPOs:
CaseNOTHPOSFreeText:
CasePreviousTesting: negative IRD gene panel analysis
CaseGenotypingMethod: "genome-wide analysis" -exome or genome sequencing
Variant: c.367 C > T p.(Arg123Trp); c.682-7 T > G p.(Gln230); p.(Leu193Phefs27)
ClinVarID: or CAID: CA6828832; CA6828747
gnomAD: This non-canonical splice site variant, c.682-7T>G, is present in gnomAD v4.1.0 with a MAF=0.001031 (66/64040 alleles) in the European Finnish population with 0 homozygotes.
This missense variant, p.Arg123Trp, is present in gnomAD v4.1.0 with a MAF=0.00002665 (2/75052 alleles) in the African/African American population and 0 homozygotes.
AddCaseInfo: only family member noted to be affected, others do not have genotype information available
PreviouslyPublished: n/a
VariantEvidence: