ClinVar Miner

Submissions for variant NM_001163809.2(WDR81):c.4879G>A (p.Val1627Met)

gnomAD frequency: 0.00003  dbSNP: rs376807220
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003991777 SCV004810000 uncertain significance Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 2024-04-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV005301424 SCV005962416 uncertain significance Inborn genetic diseases 2025-03-09 criteria provided, single submitter clinical testing The c.4879G>A (p.V1627M) alteration is located in exon 7 (coding exon 7) of the WDR81 gene. This alteration results from a G to A substitution at nucleotide position 4879, causing the valine (V) at amino acid position 1627 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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