ClinVar Miner

Submissions for variant NM_002641.4(PIGA):c.91C>T (p.Arg31Cys)

gnomAD frequency: 0.00001  dbSNP: rs780532806
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090787 SCV001246509 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001319054 SCV001509781 uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 2 2020-02-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 31 of the PIGA protein (p.Arg31Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs780532806, ExAC 0.002%). This variant has not been reported in the literature in individuals with PIGA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV002555941 SCV003576320 uncertain significance Inborn genetic diseases 2021-09-17 criteria provided, single submitter clinical testing The c.91C>T (p.R31C) alteration is located in exon 2 (coding exon 1) of the PIGA gene. This alteration results from a C to T substitution at nucleotide position 91, causing the arginine (R) at amino acid position 31 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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