ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.2288A>T (p.Glu763Val) (rs373098580)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861887 SCV001002301 benign Capillary malformation-arteriovenous malformation 2020-12-04 criteria provided, single submitter clinical testing
Mendelics RCV000987531 SCV001136846 benign Capillary malformation-arteriovenous malformation 1 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000987531 SCV001313891 benign Capillary malformation-arteriovenous malformation 1 2017-09-01 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Broad Institute Rare Disease Group, Broad Institute RCV000987531 SCV001435193 benign Capillary malformation-arteriovenous malformation 1 criteria provided, single submitter research The heterozygous p.Glu763Val variant in RASA1 has been identified in an individual with multifocal capillary malformations, arteriovenous malformations, vein of Galen aneurysmal malformation, cardiac failure, and epilepsy and who died shortly after birth (PMID: 18446851). This variant may have been inherited de novo (PMID: 18446851). However, this variant has been identified in >1% of South Asian chromosomes and 7 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal dominant capillary malformation-arteriovenous malformation.

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