ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.311A>G (p.Glu104Gly)

gnomAD frequency: 0.00012  dbSNP: rs747959135
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001053467 SCV001217731 uncertain significance Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 104 of the MKKS protein (p.Glu104Gly). This variant is present in population databases (rs747959135, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with MKKS-related conditions. ClinVar contains an entry for this variant (Variation ID: 849490). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV004735943 SCV005366072 uncertain significance MKKS-related disorder 2024-04-09 no assertion criteria provided clinical testing The MKKS c.311A>G variant is predicted to result in the amino acid substitution p.Glu104Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.032% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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