ClinVar Miner

Submissions for variant NM_012120.3(CD2AP):c.1612G>T (p.Asp538Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003060041 SCV003439435 uncertain significance not provided 2022-06-17 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. This missense change has been observed in individual(s) with autosomal dominant focal segmental glomerulosclerosis (PMID: 26248470). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 538 of the CD2AP protein (p.Asp538Tyr). This variant is present in population databases (rs762462951, gnomAD 0.005%).

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