ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.239A>C (p.Glu80Ala)

dbSNP: rs104894671
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000085995 SCV001446931 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001386170 SCV001586308 pathogenic Leber congenital amaurosis 7; Cone-rod dystrophy 2 2023-08-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects CRX function (PMID: 11971869). 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: 7416). This missense change has been observed in individual(s) with autosomal dominant cone-rod dystrophy (PMID: 9390563). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 80 of the CRX protein (p.Glu80Ala).
GeneDx RCV000085995 SCV003927518 pathogenic not provided 2023-05-23 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect on photoreceptor development (Terrell et al., 2012); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 27013732, 36778408, Sun[MeetingAbstract]2022, 37181651, 11971869, 24888636, 10967037, 12215455, 9390563, 9792858, 22113834, 31626798)
OMIM RCV000007841 SCV000028046 pathogenic Cone-rod dystrophy 2 1997-11-14 no assertion criteria provided literature only
Retina International RCV000085995 SCV000118138 not provided not provided no assertion provided not provided

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