ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.251_252del (p.His84fs)

gnomAD frequency: 0.00001  dbSNP: rs756259125
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001267057 SCV001445238 pathogenic Inborn genetic diseases 2017-02-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504383 SCV002810371 likely pathogenic McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 2022-05-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003770393 SCV004577651 pathogenic Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2023-04-25 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 985902). This variant is present in population databases (rs756259125, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.His84Argfs*6) 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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