ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys)

gnomAD frequency: 0.00003  dbSNP: rs138359497
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000416105 SCV000493629 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764208 SCV000895211 uncertain significance Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000416105 SCV002154718 likely pathogenic not provided 2023-12-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 124 of the ABCA4 protein (p.Arg124Cys). This variant is present in population databases (rs138359497, gnomAD 0.01%). This missense change has been observed in individual(s) with Stargardt disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 374737). 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 ABCA4 protein function with a positive predictive value of 95%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
GeneDx RCV000416105 SCV004035560 uncertain significance not provided 2023-09-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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