ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.1259A>G (p.Tyr420Cys)

gnomAD frequency: 0.00001  dbSNP: rs748071139
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214297 SCV001385972 uncertain significance Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 420 of the MKKS protein (p.Tyr420Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs748071139, ExAC 0.002%). 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 C65"). 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.

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