ClinVar Miner

Submissions for variant NM_153033.5(KCTD7):c.388C>T (p.Gln130Ter)

dbSNP: rs1207922864
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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 RCV001903883 SCV002175754 pathogenic Progressive myoclonic epilepsy type 3 2023-08-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KCTD7-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln130*) 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). ClinVar contains an entry for this variant (Variation ID: 1405546). For these reasons, this variant has been classified as Pathogenic.

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