ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.2T>G (p.Met1Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003783739 SCV004571449 pathogenic Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2023-12-20 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the MKKS mRNA. The next in-frame methionine is located at codon 165. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individuals with Bardet-Biedl syndrome (PMID: 15666242, 25982971). This variant disrupts a region of the MKKS protein in which other variant(s) (p.Thr57Ala) have been determined to be pathogenic (PMID: 10973251; Invitae; external communication). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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