ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys) (rs145752649)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000342211 SCV000458971 likely benign Parkes Weber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397802 SCV000458972 benign Capillary malformation-arteriovenous malformation 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000858079 SCV000562862 benign Capillary malformation-arteriovenous malformation 2020-12-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506253 SCV000605012 benign not specified 2017-04-25 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000397802 SCV000803529 uncertain significance Capillary malformation-arteriovenous malformation 1 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Uncertain Significance - Conflicting Evidence, for Capillary malformation-arteriovenous malformation, in Autosomal Dominant manner. The following ACMG Tag(s) were applied: PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. BS2-Supporting => BS2 downgraded in strength to supporting.
GeneDx RCV001712339 SCV001941583 benign not provided 2021-06-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24038909, 27884173, 28655553, 30507091, 27081547, 27535533, 33125148)

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