ClinVar Miner

Submissions for variant NM_000944.5(PPP3CA):c.218G>A (p.Arg73Gln)

dbSNP: rs141696639
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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 RCV001865094 SCV002118975 uncertain significance not provided 2024-05-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 73 of the PPP3CA protein (p.Arg73Gln). This variant is present in population databases (rs141696639, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of PPP3CA-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 1361019). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PPP3CA protein function with a negative predictive value of 80%. 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 RCV005023314 SCV005659868 uncertain significance Developmental and epileptic encephalopathy 91; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 2024-06-01 criteria provided, single submitter clinical testing

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