ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.1265G>A (p.Arg422Lys)

gnomAD frequency: 0.00003  dbSNP: rs754555322
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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 RCV001351984 SCV001546501 uncertain significance Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 422 of the MKKS protein (p.Arg422Lys). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and lysine. This variant is present in population databases (rs754555322, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with MKKS-related conditions. 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: "Benign"; Align-GVGD: "Class C25"). 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 RCV004734141 SCV005365017 uncertain significance MKKS-related disorder 2024-02-06 no assertion criteria provided clinical testing The MKKS c.1265G>A variant is predicted to result in the amino acid substitution p.Arg422Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0070% 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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