ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.346T>C (p.Ser116Pro)

dbSNP: rs1562907616
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000690574 SCV000818264 uncertain significance Cerebral cavernous malformation 2 2018-07-31 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has been observed in a family affected with cerebral cavernous malformations (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with proline at codon 116 of the CCM2 protein (p.Ser116Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline.
OMIM RCV000690574 SCV004023350 pathogenic Cerebral cavernous malformation 2 2023-08-04 no assertion criteria provided literature only

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