ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.3109_3112del (p.Gln1037fs) (rs1554051094)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546260 SCV000639545 likely pathogenic Capillary malformation-arteriovenous malformation 2019-05-10 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the last exon of the RASA1 gene (p.Gln1037Thrfs*63). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 11 amino acids of the RASA1 protein, and to extend the protein by an additional 52 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with capillary malformation-arteriovenous malformation in a family (PMID: 24038909). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the frameshift is currently unknown. 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.

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