ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.763dup (p.Thr255fs)

dbSNP: rs2122234387
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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 RCV001982150 SCV002213852 pathogenic Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2021-11-01 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 affected with MKKS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr255Asnfs*15) 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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