ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.224G>C (p.Gly75Ala) (rs200002693)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000268284 SCV000458941 likely benign Parkes Weber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321017 SCV000458942 likely benign Capillary malformation-arteriovenous malformation 1 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756591 SCV000884448 likely benign not provided 2018-02-26 criteria provided, single submitter clinical testing The p.Gly75Ala variant (rs200002693) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) with a population frequency of 0.7 percent in the East Asian population (identified on 133 out of 18,442 chromosomes) and has been reported to the ClinVar database (Variation ID: 354505) with a likely benign classification. The glycine at position 75 is moderately conserved considering 12 species (Alamut v2.10) and computational analyses of the p.Gly75Ala variant on protein structure and function indicate a neutral effect (SIFT: tolerated, PolyPhen-2:benign). Altogether the p.Gly75Ala variant is considered be likely benign.
Invitae RCV001088338 SCV001003684 benign Capillary malformation-arteriovenous malformation 2019-12-31 criteria provided, single submitter clinical testing

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