ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.1250C>A (p.Ala417Asp)

gnomAD frequency: 0.00006  dbSNP: rs750706895
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233344 SCV001405933 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing 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: 959910). This variant has not been reported in the literature in individuals affected with PCARE-related conditions. This variant is present in population databases (rs750706895, gnomAD 0.02%). This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 417 of the PCARE protein (p.Ala417Asp).

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