ClinVar Miner

Submissions for variant NM_002641.4(PIGA):c.392T>A (p.Phe131Tyr)

dbSNP: rs1922155142
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330948 SCV001522820 uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 2 2020-12-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001330948 SCV002274196 uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 2 2020-11-13 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 phenylalanine with tyrosine at codon 131 of the PIGA protein (p.Phe131Tyr). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of PIGA-related conditions (Invitae). 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").

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