ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1037A>C (p.Lys346Thr)

gnomAD frequency: 0.00001  dbSNP: rs61752389
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073640 SCV001239191 uncertain significance Retinal dystrophy 2019-07-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000085371 SCV001540161 likely pathogenic not provided 2024-07-01 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 346 of the ABCA4 protein (p.Lys346Thr). This variant is present in population databases (rs61752389, gnomAD 0.0009%). This missense change has been observed in individual(s) with clinical features of ABCA4-related conditions (PMID: 23953153, 26230768, 26551331, 35120629). ClinVar contains an entry for this variant (Variation ID: 99028). 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.
Retina International RCV000085371 SCV000117508 not provided not provided no assertion provided not provided

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