ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter)

dbSNP: rs863223718
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196439 SCV000250641 pathogenic not provided 2020-09-01 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Identified in individuals with capillary malformation-arteriovenous malformation in published literature (Revencu et al., 2013); This variant is associated with the following publications: (PMID: 24038909, 25040287, 29891884, 30635911)
Fulgent Genetics, Fulgent Genetics RCV000763548 SCV000894365 pathogenic Basal cell carcinoma, susceptibility to, 1; Capillary malformation-arteriovenous malformation 1 2022-01-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000196439 SCV001961890 pathogenic not provided 2021-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001853161 SCV002137007 pathogenic Capillary malformation-arteriovenous malformation syndrome 2023-02-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg711*) in the RASA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RASA1 are known to be pathogenic (PMID: 24038909). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with capillary malformations and arteriovenous malformations (PMID: 24038909). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 213660). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002415841 SCV002726146 pathogenic Cardiovascular phenotype 2015-11-24 criteria provided, single submitter clinical testing The p.R711* pathogenic mutation (also known as c.2131C>T), located in coding exon 16 of the RASA1 gene, results from a C to T substitution at nucleotide position 2131. This changes the amino acid from an arginine to a stop codon within coding exon 16. This mutation has been reported in multiple individuals with capillary malformations (Revencu N et al, Hum. Mutat. 2013 Dec; 34(12):1632-41). In addition to the clinical data presented in the literature, since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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