Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004766787 | SCV005380435 | pathogenic | Cohen syndrome | 2024-08-22 | criteria provided, single submitter | clinical testing | Variant summary: VPS13B c.673C>T (p.Gln225X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 8.2e-06 in 244050 control chromosomes. To our knowledge, no occurrence of c.673C>T in individuals affected with Cohen Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic. |