ClinVar Miner

Submissions for variant NM_001163809.2(WDR81):c.5314C>T (p.Pro1772Ser)

gnomAD frequency: 0.00006  dbSNP: rs144021458
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000784934 SCV000923476 uncertain significance not specified 2019-01-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262566 SCV001440487 uncertain significance Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 2019-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003362936 SCV004054624 uncertain significance Inborn genetic diseases 2023-09-13 criteria provided, single submitter clinical testing The c.5314C>T (p.P1772S) alteration is located in exon 8 (coding exon 8) of the WDR81 gene. This alteration results from a C to T substitution at nucleotide position 5314, causing the proline (P) at amino acid position 1772 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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