ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.118G>T (p.Ala40Ser)

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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 RCV002605810 SCV002972456 uncertain significance Capillary malformation-arteriovenous malformation syndrome 2022-10-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RASA1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 40 of the RASA1 protein (p.Ala40Ser). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").
Ambry Genetics RCV004656953 SCV005163127 uncertain significance Cardiovascular phenotype 2024-04-19 criteria provided, single submitter clinical testing The p.A40S variant (also known as c.118G>T), located in coding exon 1 of the RASA1 gene, results from a G to T substitution at nucleotide position 118. The alanine at codon 40 is replaced by serine, 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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