ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.2560G>A (p.Ala854Thr)

gnomAD frequency: 0.00007  dbSNP: rs368030329
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000512959 SCV000608890 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
Invitae RCV000512959 SCV001494318 uncertain significance not provided 2022-06-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with WDR62-related conditions. 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. 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 threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 444461). This variant is present in population databases (rs368030329, gnomAD 0.02%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 854 of the WDR62 protein (p.Ala854Thr).

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