ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn)

dbSNP: rs1553186514
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000596944 SCV001399293 pathogenic not provided 2022-08-16 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 ABCA4 protein function. ClinVar contains an entry for this variant (Variation ID: 498228). This missense change has been observed in individuals with Stargardt and other retinal diseases (PMID: 25312043, 29555955; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 2072 of the ABCA4 protein (p.Ser2072Asn).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000596944 SCV001446895 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
GeneDx RCV000596944 SCV001782330 pathogenic not provided 2020-08-10 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29555955, 25312043)
Eurofins Ntd Llc (ga) RCV000596944 SCV000703130 uncertain significance not provided 2016-11-08 flagged submission clinical testing

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