ClinVar Miner

Submissions for variant NM_000063.6(C2):c.1390G>A (p.Gly464Arg)

gnomAD frequency: 0.00001  dbSNP: rs151340617
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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 RCV002512999 SCV003439368 uncertain significance not provided 2022-03-24 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. RNA analysis performed to evaluate the impact of this missense change on mRNA splicing indicates it does not significantly alter splicing (PMID: 8621452). Experimental studies have shown that this missense change affects C2 function (PMID: 8621452). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant is also known as c.1330G>A (Gly444Arg). This missense change has been observed in individual(s) with C2 deficiency (PMID: 1542325, 8621452). This variant is present in population databases (rs151340617, gnomAD 0.002%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 464 of the C2 protein (p.Gly464Arg).
OMIM RCV000012912 SCV000033153 pathogenic C2 deficiency, type II 1996-03-08 no assertion criteria provided literature only

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