ClinVar Miner

Submissions for variant NM_153033.5(KCTD7):c.604del (p.Tyr202fs)

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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 RCV002281884 SCV002572457 likely pathogenic Neuronal ceroid lipofuscinosis 2022-08-31 criteria provided, single submitter clinical testing Variant summary: KCTD7 c.604delT (p.Tyr202MetfsX71) 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. Truncations (p.Phe232fs, p.Leu244fs) downstream of this position have been classified as pathogenic by our laboratory or ClinVar database. The variant allele was found at a frequency of 4e-06 in 251422 control chromosomes (gnomAD). To our knowledge, no occurrence of c.604delT in individuals affected with Neuronal Ceroid-Lipofuscinosis (Batten Disease) 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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