ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.124G>A (p.Glu42Lys)

dbSNP: rs863224863
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000197997 SCV000255354 likely pathogenic Leber congenital amaurosis 7 2013-05-21 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075515 SCV001241140 likely pathogenic Retinal dystrophy 2018-11-16 criteria provided, single submitter clinical testing
Invitae RCV002517299 SCV003443263 pathogenic Leber congenital amaurosis 7; Cone-rod dystrophy 2 2023-03-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CRX protein function. ClinVar contains an entry for this variant (Variation ID: 216914). This missense change has been observed in individual(s) with autosomal dominant Leber congenital amaurosis (PMID: 21602930, 25326637, 31630094). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 42 of the CRX protein (p.Glu42Lys).
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000197997 SCV004805356 uncertain significance Leber congenital amaurosis 7 criteria provided, single submitter research

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