ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.942_945del (p.Asp314fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003069923 SCV003470694 pathogenic Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2021-04-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp314Glufs*4) 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). 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.
Baylor Genetics RCV003475506 SCV004194910 likely pathogenic Bardet-Biedl syndrome 6 2022-07-14 criteria provided, single submitter clinical testing

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