ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.64G>T (p.Gly22Cys)

gnomAD frequency: 0.00009  dbSNP: rs371413736
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757714 SCV000886040 benign not provided 2017-09-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001206753 SCV001378077 uncertain significance Capillary malformation-arteriovenous malformation syndrome 2025-01-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 22 of the RASA1 protein (p.Gly22Cys). This variant is present in population databases (rs371413736, gnomAD 0.01%). This missense change has been observed in individual(s) with capillary malformation–arteriovenous malformation (PMID: 24038909). ClinVar contains an entry for this variant (Variation ID: 618857). 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.
Baylor Genetics RCV001332196 SCV001524438 uncertain significance Capillary malformation-arteriovenous malformation 1 2019-01-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000757714 SCV001814306 likely benign not provided 2020-10-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24038909)

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.