ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.358_359delinsAA (p.Val120Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003048507 SCV003351156 uncertain significance Cerebral cavernous malformation 2 2022-07-02 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This missense change has been observed in individual(s) with cerebral cavernous malformations (Invitae). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant, c.358_359delinsAA, is a complex sequence change that results in the deletion of 1 and insertion of 1 amino acid(s) in the CCM2 protein (p.Val120Asn). 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.

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