ClinVar Miner

Submissions for variant NM_000944.5(PPP3CA):c.886A>T (p.Thr296Ser)

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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 RCV002636066 SCV002973139 uncertain significance not provided 2022-08-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PPP3CA-related conditions. This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 296 of the PPP3CA protein (p.Thr296Ser). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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. 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.
PreventionGenetics, part of Exact Sciences RCV004725340 SCV005337521 likely benign PPP3CA-related disorder 2024-06-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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