ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.744C>T (p.Ser248=)

gnomAD frequency: 0.00001  dbSNP: rs1240228560
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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 RCV001926795 SCV002206167 uncertain significance Cerebral cavernous malformation 2 2023-07-17 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 1425637). This variant has not been reported in the literature in individuals affected with CCM2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change affects codon 248 of the CCM2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CCM2 protein. It affects a nucleotide within the consensus splice site. 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.
Ambry Genetics RCV003303423 SCV003997910 likely benign Inborn genetic diseases 2023-04-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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