ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.380del (p.Cys127fs)

gnomAD frequency: 0.00001  dbSNP: rs867346158
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001209091 SCV001380512 pathogenic Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2024-01-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys127Serfs*32) 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 premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 21209035). ClinVar contains an entry for this variant (Variation ID: 939663). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002484130 SCV002780191 likely pathogenic McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 2021-09-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV003473754 SCV004194906 pathogenic Bardet-Biedl syndrome 6 2022-09-10 criteria provided, single submitter clinical testing

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