ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.732_733del (p.Phe244fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003476465 SCV004194880 likely pathogenic Bardet-Biedl syndrome 6 2024-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779054 SCV004609275 pathogenic Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe244Leufs*10) 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 (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MKKS-related conditions. For these reasons, this variant has been classified as Pathogenic.
DNA-diagnostics Laboratory, Research Centre For Medical Genetics RCV003476465 SCV005061820 likely benign Bardet-Biedl syndrome 6 criteria provided, single submitter clinical testing

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