ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.384C>T (p.Leu128=)

gnomAD frequency: 0.00121  dbSNP: rs34385096
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558647 SCV000639546 benign Capillary malformation-arteriovenous malformation syndrome 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358502 SCV002622747 likely benign Cardiovascular phenotype 2022-02-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003925645 SCV004743684 benign RASA1-related disorder 2019-02-25 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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