ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.1120G>A (p.Val374Met)

dbSNP: rs200669376
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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 RCV001995652 SCV002276717 uncertain significance Cerebral cavernous malformation 2 2021-09-18 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. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with CCM2-related conditions. This variant is present in population databases (rs200669376, ExAC 0.003%). This sequence change replaces valine with methionine at codon 374 of the CCM2 protein (p.Val374Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine.
Ambry Genetics RCV002573557 SCV003694308 uncertain significance Inborn genetic diseases 2022-09-07 criteria provided, single submitter clinical testing The c.1120G>A (p.V374M) alteration is located in exon 10 (coding exon 10) of the CCM2 gene. This alteration results from a G to A substitution at nucleotide position 1120, causing the valine (V) at amino acid position 374 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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