ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.837del (p.Gly280fs)

gnomAD frequency: 0.00001  dbSNP: rs776004321
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001384028 SCV001583391 pathogenic Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2020-04-09 criteria provided, single submitter clinical testing Loss-of-function variants in MKKS are known to be pathogenic (PMID: 12107442, 20177705). This variant has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 30718709). ClinVar contains an entry for this variant (Variation ID: 636041). This variant is present in population databases (rs776004321, ExAC 0.001%). This sequence change creates a premature translational stop signal (p.Gly280Glufs*4) in the MKKS gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV004527814 SCV004103450 pathogenic MKKS-related disorder 2023-06-01 criteria provided, single submitter clinical testing The MKKS c.837delA variant is predicted to result in a frameshift and premature protein termination (p.Leu279Leufs*5). This variant has been reported in the heterozygous state in an individual with Bardet-Biedl syndrome; However no additional variants were identified to explain autosomal recessive disease (Table 1, Hjortshøj et al 2010. PubMed ID: 20120035). This variant is reported in 0.0035% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-10393325-CT-C). Frameshift variants in MKKS are expected to be pathogenic. This variant is interpreted as pathogenic.
Baylor Genetics RCV003472324 SCV004194903 pathogenic Bardet-Biedl syndrome 6 2022-12-08 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818006 SCV005072082 pathogenic Retinal dystrophy 2011-01-01 criteria provided, single submitter clinical testing
SingHealth Duke-NUS Institute of Precision Medicine RCV003472324 SCV005881570 likely pathogenic Bardet-Biedl syndrome 6 2025-02-05 criteria provided, single submitter clinical testing Variant is predicted to cause nonsense-mediated decay in a gene where LOF is a known cause of pathogenicity (PVS1). Homozygous allele count in gnomAD genomes or exomes are less than 0 (PM2).
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787621 SCV000926605 likely pathogenic Bardet-Biedl syndrome 2018-04-01 no assertion criteria provided research

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