ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.428_430del (p.Ser143del)

dbSNP: rs1562907973
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697480 SCV000826094 uncertain significance Cerebral cavernous malformation 2 2018-01-24 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. This variant has not been reported in the literature in individuals with CCM2-related disease. This variant is not present in population databases (ExAC no frequency). This variant, c.428_430delCCT, results in the deletion of 1 amino acid of the CCM2 protein (p.Ser143del), but otherwise preserves the integrity of the reading frame.

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