ClinVar Miner

Submissions for variant NM_015937.6(PIGT):c.1620_1621inv (p.Gly541Ser)

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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 RCV002982235 SCV003287496 uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 3 2023-08-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PIGT-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 541 of the PIGT protein (p.Gly541Ser). ClinVar contains an entry for this variant (Variation ID: 2074479). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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