ClinVar Miner

Submissions for variant NM_015937.6(PIGT):c.1264C>T (p.Arg422Trp)

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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 RCV002647795 SCV003523657 uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 3 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 422 of the PIGT protein (p.Arg422Trp). This variant is present in population databases (rs748973089, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with PIGT-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV004961154 SCV005469432 uncertain significance Inborn genetic diseases 2024-08-12 criteria provided, single submitter clinical testing The c.1264C>T (p.R422W) alteration is located in exon 10 (coding exon 10) of the PIGT gene. This alteration results from a C to T substitution at nucleotide position 1264, causing the arginine (R) at amino acid position 422 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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