ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.17C>T (p.Ala6Val)

gnomAD frequency: 0.00001  dbSNP: rs1010729751
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000469146 SCV000553000 uncertain significance Capillary malformation-arteriovenous malformation syndrome 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 6 of the RASA1 protein (p.Ala6Val). 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 variant has not been reported in the literature in individuals affected with RASA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 411715). 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. 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.
Ambry Genetics RCV002411513 SCV002717297 uncertain significance Cardiovascular phenotype 2022-10-07 criteria provided, single submitter clinical testing The p.A6V variant (also known as c.17C>T), located in coding exon 1 of the RASA1 gene, results from a C to T substitution at nucleotide position 17. The alanine at codon 6 is replaced by valine, 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.
CeGaT Center for Human Genetics Tuebingen RCV003431020 SCV004159079 uncertain significance not provided 2023-08-01 criteria provided, single submitter clinical testing RASA1: PM2

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