ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.776A>C (p.Asp259Ala)

dbSNP: rs768028361
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001867085 SCV002121896 uncertain significance Autosomal dominant polycystic kidney disease 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 259 of the PKD2 protein (p.Asp259Ala). 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1355746). This variant has not been reported in the literature in individuals affected with PKD2-related conditions. This variant is present in population databases (rs768028361, gnomAD 0.003%).
Fulgent Genetics, Fulgent Genetics RCV002478122 SCV002801359 uncertain significance Polycystic kidney disease 2 2024-04-16 criteria provided, single submitter clinical testing

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