ClinVar Miner

Submissions for variant NM_153033.5(KCTD7):c.731del (p.Leu244fs)

dbSNP: rs2116775575
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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 RCV001797958 SCV002041835 likely pathogenic Neuronal ceroid lipofuscinosis 2021-11-10 criteria provided, single submitter clinical testing Variant summary: KCTD7 c.731delT (p.Leu244ArgfsX29) results in a premature termination at codon 273, 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. Other variants causing premature termination at codon 273 or at a downstream codon (e.g. p.Ile199SerfsX74, p.Phe232LeufsX41, p.Trp289X) have been cited in various databases (ClinVar, HGMD, LOVD) as pathogenic and disease-associated. The variant was absent in 251276 control chromosomes (gnomAD). To our knowledge, no occurrence of c.731delT 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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