ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.335G>C (p.Gly112Ala)

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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 RCV003595360 SCV004279389 uncertain significance Capillary malformation-arteriovenous malformation syndrome 2023-04-22 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with RASA1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 112 of the RASA1 protein (p.Gly112Ala).
Ambry Genetics RCV004985402 SCV005488688 uncertain significance Cardiovascular phenotype 2024-08-11 criteria provided, single submitter clinical testing The p.G112A variant (also known as c.335G>C), located in coding exon 1 of the RASA1 gene, results from a G to C substitution at nucleotide position 335. The glycine at codon 112 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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