Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
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. |