ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.1290G>A (p.Gln430=) (rs765869491)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233174 SCV000287748 uncertain significance Capillary malformation-arteriovenous malformation 1 2016-03-27 criteria provided, single submitter clinical testing This sequence change affects codon 430 of the RASA1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RASA1 protein. This variant is present in population databases (rs765869491, ExAC 0.04%) but has not been reported in the literature in individuals with a RASA1-related disease. This sequence change is not expected to affect splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Invitae RCV001449154 SCV001652260 likely benign Capillary malformation-arteriovenous malformation 2018-09-04 criteria provided, single submitter clinical testing

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