ClinVar Miner

Submissions for variant NM_006245.4(PPP2R5D):c.124C>A (p.Pro42Thr)

gnomAD frequency: 0.00001  dbSNP: rs766986033
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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 RCV001911201 SCV002159378 uncertain significance not provided 2023-05-25 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1392229). This variant has not been reported in the literature in individuals affected with PPP2R5D-related conditions. This variant is present in population databases (rs766986033, gnomAD 0.002%). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 42 of the PPP2R5D protein (p.Pro42Thr).

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