ClinVar Miner

Submissions for variant NM_000944.5(PPP3CA):c.1354A>G (p.Ile452Val)

gnomAD frequency: 0.00002  dbSNP: rs749840124
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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 RCV002007105 SCV002235428 uncertain significance not provided 2024-10-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 452 of the PPP3CA protein (p.Ile452Val). This variant is present in population databases (rs749840124, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PPP3CA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1451016). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV005025507 SCV005659853 uncertain significance Developmental and epileptic encephalopathy 91; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 2024-02-07 criteria provided, single submitter clinical testing

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