ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.1280A>G (p.Asn427Ser)

gnomAD frequency: 0.00001  dbSNP: rs776235071
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001238283 SCV001411086 uncertain significance Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 427 of the MKKS protein (p.Asn427Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs776235071, 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV005036520 SCV005663371 uncertain significance McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734067 SCV005361684 uncertain significance MKKS-related disorder 2024-05-10 no assertion criteria provided clinical testing The MKKS c.1280A>G variant is predicted to result in the amino acid substitution p.Asn427Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.013% 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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