ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.1935-3T>C

gnomAD frequency: 0.00039  dbSNP: rs201249348
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000556122 SCV000639534 uncertain significance Capillary malformation-arteriovenous malformation syndrome 2025-01-22 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the RASA1 gene. It does not directly change the encoded amino acid sequence of the RASA1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs201249348, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with RASA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 464855). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001551616 SCV001772157 likely benign not provided 2020-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413525 SCV002723800 benign Cardiovascular phenotype 2022-03-25 criteria provided, single submitter clinical testing This alteration is classified as 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.

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