ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.940_941del (p.Asp314fs)

dbSNP: rs2064897670
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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 RCV001940848 SCV002214627 pathogenic Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2023-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp314Glnfs*12) 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. ClinVar contains an entry for this variant (Variation ID: 1431638). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003471075 SCV004192597 likely pathogenic Bardet-Biedl syndrome 6 2023-10-17 criteria provided, single submitter clinical testing

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