ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2804T>C (p.Val935Ala)

dbSNP: rs61749444
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000085507 SCV001413879 pathogenic not provided 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 935 of the ABCA4 protein (p.Val935Ala). ClinVar contains an entry for this variant (Variation ID: 99159). 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. This missense change has been observed in individual(s) with clinical features of Stargardt disease (PMID: 11527935, 19074458, 29925512; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs61749444, gnomAD 0.0009%).
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815091 SCV005069128 likely pathogenic Retinal dystrophy 2015-01-01 criteria provided, single submitter clinical testing
Retina International RCV000085507 SCV000117644 not provided not provided no assertion provided not provided

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