ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.59A>G (p.Glu20Gly)

gnomAD frequency: 0.00020  dbSNP: rs199553497
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593856 SCV000704078 uncertain significance not provided 2017-01-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001036412 SCV001199774 uncertain significance Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2024-09-06 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 20 of the MKKS protein (p.Glu20Gly). This variant is present in population databases (rs199553497, gnomAD 0.02%). 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: 498858). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MKKS protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002483598 SCV002776543 uncertain significance McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 2022-02-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530680 SCV004118144 uncertain significance MKKS-related disorder 2024-09-24 no assertion criteria provided clinical testing The MKKS c.59A>G variant is predicted to result in the amino acid substitution p.Glu20Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.015% of alleles in individuals of European (Non-Finnish) 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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