ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6302T>G (p.Met2101Arg)

dbSNP: rs1659161479
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052521 SCV001216733 uncertain significance not provided 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2101 of the ABCA4 protein (p.Met2101Arg). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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: 848704). This missense change has been observed in individual(s) with clinical features of ABCA4-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency).

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