ClinVar Miner

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

dbSNP: rs201249348
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002232790 SCV000762155 likely pathogenic Capillary malformation-arteriovenous malformation syndrome 2018-01-30 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Nucleotide substitutions within 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 may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed to be de novo in an individual affected with a capillary malformation and intracranial dural AV fistula (Invitae). This variant is not present in population databases (ExAC no frequency). 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, but it affects a nucleotide within the consensus splice site of the intron.

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