ClinVar Miner

Submissions for variant NM_015937.6(PIGT):c.1711C>T (p.Arg571Cys)

gnomAD frequency: 0.00001  dbSNP: rs375221973
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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 RCV001041725 SCV001205356 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 cysteine, which is neutral and slightly polar, at codon 571 of the PIGT protein (p.Arg571Cys). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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"). ClinVar contains an entry for this variant (Variation ID: 839867). This variant has not been reported in the literature in individuals affected with PIGT-related conditions. This variant is present in population databases (rs375221973, gnomAD 0.007%).

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