Submissions for variant NM_015937.6(PIGT):c.1252C>G (p.Pro418Ala)

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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	RCV002794899	SCV003025337	uncertain significance	Multiple congenital anomalies-hypotonia-seizures syndrome 3	2022-03-10	criteria provided, single submitter	clinical testing	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. This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 418 of the PIGT protein (p.Pro418Ala). This variant is present in population databases (rs376559379, gnomAD 0.0009%). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").
Fulgent Genetics, Fulgent Genetics	RCV005027953	SCV005657009	uncertain significance	Multiple congenital anomalies-hypotonia-seizures syndrome 3; Paroxysmal nocturnal hemoglobinuria 2	2023-12-29	criteria provided, single submitter	clinical testing

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