ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.499del (p.Glu167fs)

dbSNP: rs2112223281
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital and Chulalongkorn University, Chulalongkorn University RCV001354043 SCV001437513 pathogenic Capillary malformation-arteriovenous malformation 1 2020-10-01 criteria provided, single submitter clinical testing The variation is predicted to result in premature termination codon due to the frameshift changed by 1 bp deletion in RASA1. The mutation in this gene is known to be associated with capillary-malformation- arteriovenous malformation 1. The loss of function is the known mechanisms of this gene. The variant was not found in gnomAD database or TOPMED database. The clinical manifestation of the patient can be explained by the change in this gene. Therefore, we characterize this variant as pathogenic according to the ACMG criteria.

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