ClinVar Miner

Submissions for variant NM_015937.6(PIGT):c.1279C>T (p.Leu427Phe)

gnomAD frequency: 0.00004  dbSNP: rs778543062
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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 RCV001922314 SCV002156909 uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 3 2024-10-15 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 427 of the PIGT protein (p.Leu427Phe). This variant is present in population databases (rs778543062, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with PIGT-related conditions. ClinVar contains an entry for this variant (Variation ID: 1382840). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt PIGT protein function with a positive predictive value of 95%. 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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