ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.130A>C (p.Lys44Gln)

gnomAD frequency: 0.00001  dbSNP: rs2064910872
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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 RCV001326071 SCV001517085 uncertain significance Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 44 of the MKKS protein (p.Lys44Gln). This variant is not present in population databases (gnomAD no frequency). 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: 1025719). 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.
Fulgent Genetics, Fulgent Genetics RCV005023048 SCV005658744 uncertain significance McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 2024-01-10 criteria provided, single submitter clinical testing

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