ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.1034G>A (p.Gly345Glu)

gnomAD frequency: 0.00001  dbSNP: rs779116830
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001376919 SCV001574118 likely pathogenic Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2023-07-28 criteria provided, single submitter clinical testing Experimental studies have shown that this missense change affects MKKS function (PMID: 18094050, 20498079, 20502701, 22446187). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MKKS protein function. ClinVar contains an entry for this variant (Variation ID: 1066030). This missense change has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 12107442). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs779116830, gnomAD 0.006%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 345 of the MKKS protein (p.Gly345Glu).
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV003222313 SCV003915860 pathogenic Bardet-Biedl syndrome criteria provided, single submitter research
Baylor Genetics RCV003473898 SCV004194883 likely pathogenic Bardet-Biedl syndrome 6 2023-09-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579882 SCV001808834 likely pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001579882 SCV001953119 likely pathogenic not provided no assertion criteria provided clinical testing

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