ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.97del (p.Ile32_Val33insTer)

dbSNP: rs2122236468
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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 RCV001958602 SCV002234300 pathogenic Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2020-12-24 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MKKS-related conditions. For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Val33*) in the MKKS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MKKS are known to be pathogenic (PMID: 11179009, 28761321, 30614526).

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