ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.709G>A (p.Gly237Arg)

gnomAD frequency: 0.00001  dbSNP: rs367920804
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069867 SCV001235064 uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 1 2022-03-19 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 863012). This missense change has been observed in individual(s) with PIGN-related congenital disorder of glycosylation (PMID: 26394714). This variant is present in population databases (rs367920804, gnomAD 0.004%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 237 of the PIGN protein (p.Gly237Arg).

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