ClinVar Miner

Submissions for variant NM_032040.5(CCDC8):c.1027C>T (p.Gln343Ter)

dbSNP: rs559473497
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003123533 SCV003801215 likely pathogenic 3M syndrome 3 2023-01-06 criteria provided, single submitter clinical testing Variant summary: CCDC8 c.1027C>T (p.Gln343X) results in a premature termination codon. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt close to 200 amino acid(s) of the CCDC8 protein. While no truncations downstream have been reported, some nearby upstream truncations have been reported in association with 3-M Syndrome in HGMD (p.Lys268Ilefs*40, p.Lys205Glufs*59). The variant allele was found at a frequency of 2e-05 in 251464 control chromosomes. To our knowledge, no occurrence of c.1027C>T in individuals affected with Three M Syndrome 3 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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