ClinVar Miner

Submissions for variant NM_002641.4(PIGA):c.236G>A (p.Gly79Asp)

dbSNP: rs2147723922
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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 RCV002027273 SCV002308986 uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 2 2023-08-08 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. 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 expected to disrupt PIGA protein function. ClinVar contains an entry for this variant (Variation ID: 1517329). This variant has not been reported in the literature in individuals affected with PIGA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 79 of the PIGA protein (p.Gly79Asp).
Mayo Clinic Laboratories, Mayo Clinic RCV002246659 SCV002520075 likely pathogenic not provided 2021-06-16 criteria provided, single submitter clinical testing PM2, PM1, PM5

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