ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.352A>G (p.Lys118Glu)

dbSNP: rs1580179229
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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 RCV001964955 SCV002199927 uncertain significance Capillary malformation-arteriovenous malformation syndrome 2021-07-21 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with RASA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamic acid at codon 118 of the RASA1 protein (p.Lys118Glu). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and glutamic acid.
Ambry Genetics RCV002458829 SCV002616142 uncertain significance Cardiovascular phenotype 2022-07-08 criteria provided, single submitter clinical testing The p.K118E variant (also known as c.352A>G), located in coding exon 1 of the RASA1 gene, results from an A to G substitution at nucleotide position 352. The lysine at codon 118 is replaced by glutamic acid, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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