ClinVar Miner

Submissions for variant NM_001163809.2(WDR81):c.3115G>A (p.Ala1039Thr)

gnomAD frequency: 0.00061  dbSNP: rs369748157
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000428638 SCV000511595 likely benign not provided 2016-09-15 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Baylor Genetics RCV001333839 SCV001526530 uncertain significance Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 2018-01-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002524735 SCV003691621 uncertain significance Inborn genetic diseases 2022-08-03 criteria provided, single submitter clinical testing The c.3115G>A (p.A1039T) alteration is located in exon 1 (coding exon 1) of the WDR81 gene. This alteration results from a G to A substitution at nucleotide position 3115, causing the alanine (A) at amino acid position 1039 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004689732 SCV005184602 likely benign not specified 2024-05-31 criteria provided, single submitter clinical testing Variant summary: WDR81 c.3115G>A (p.Ala1039Thr) results in a non-conservative amino acid change in the encoded protein sequence. Two of three in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00045 in 1580346 control chromosomes, predominantly at a frequency of 0.00056 within the Non-Finnish European subpopulation in the gnomAD database (v4.1 dataset), including 4 homozygotes. To our knowledge, no occurrence of c.3115G>A in individuals affected with Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 2 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 377255). Based on the evidence outlined above, the variant was classified as likely benign.

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