ClinVar Miner

Submissions for variant NM_006245.4(PPP2R5D):c.1573C>G (p.Pro525Ala)

dbSNP: rs767996020
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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 RCV002017349 SCV002287576 uncertain significance not provided 2021-05-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with PPP2R5D-related conditions. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 variant is present in population databases (rs767996020, ExAC 0.006%). This sequence change replaces proline with alanine at codon 525 of the PPP2R5D protein (p.Pro525Ala). The proline residue is weakly conserved and there is a small physicochemical difference between proline and alanine.

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