ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.250G>C (p.Ala84Pro)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002455659 SCV002738858 uncertain significance Cardiovascular phenotype 2021-07-12 criteria provided, single submitter clinical testing The p.A84P variant (also known as c.250G>C), located in coding exon 1 of the RASA1 gene, results from a G to C substitution at nucleotide position 250. The alanine at codon 84 is replaced by proline, an amino acid with highly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003101911 SCV003513988 uncertain significance Capillary malformation-arteriovenous malformation syndrome 2024-03-16 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 84 of the RASA1 protein (p.Ala84Pro). This variant is present in population databases (rs762035553, gnomAD 0.003%). 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: 1792381). 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.