ClinVar Miner

Submissions for variant NM_153033.5(KCTD7):c.331del (p.Leu111fs)

dbSNP: rs1786631768
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001067132 SCV001232170 pathogenic Progressive myoclonic epilepsy type 3 2021-07-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with KCTD7-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu111Cysfs*37) in the KCTD7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KCTD7 are known to be pathogenic (PMID: 22693283).

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