ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.419A>G (p.Asp140Gly)

dbSNP: rs2147516022
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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 RCV002014766 SCV002235230 uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 1 2023-05-22 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 140 of the PIGN protein (p.Asp140Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PIGN-related conditions. ClinVar contains an entry for this variant (Variation ID: 1450463). 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 PIGN protein function. 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.

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