ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2385C>G (p.Ser795Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Ophthalmology,California Pacific Medical Center RCV001280944 SCV001370545 likely pathogenic Generalized choriocapillaris dystrophy 2020-07-05 criteria provided, single submitter clinical testing
Invitae RCV001377472 SCV001574811 likely pathogenic not provided 2020-09-05 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 795 of the ABCA4 protein (p.Ser795Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with cone-rod dystrophy and Stargardt disease (PMID: 25082885, 30834176, Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant disrupts the p.Ser795 amino acid residue in ABCA4. Other variant(s) that disrupt this residue have been observed in individuals with ABCA4-related conditions (PMID: 29975949), which suggests that this may be a clinically significant amino acid residue. 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.

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