ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.3469G>A (p.Ala1157Thr)

gnomAD frequency: 0.00003  dbSNP: rs144347678
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817459 SCV002068317 uncertain significance not specified 2018-01-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541998 SCV003475076 uncertain significance not provided 2022-01-28 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with WDR62-related conditions. This variant is present in population databases (rs144347678, gnomAD 0.009%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1157 of the WDR62 protein (p.Ala1157Thr).
Ambry Genetics RCV002542536 SCV003613254 uncertain significance Inborn genetic diseases 2022-02-24 criteria provided, single submitter clinical testing The c.3469G>A (p.A1157T) alteration is located in exon 29 (coding exon 29) of the WDR62 gene. This alteration results from a G to A substitution at nucleotide position 3469, causing the alanine (A) at amino acid position 1157 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003136175 SCV003823720 uncertain significance Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2022-01-31 criteria provided, single submitter clinical testing

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