ClinVar Miner

Submissions for variant NM_001163809.2(WDR81):c.5582C>T (p.Pro1861Leu)

gnomAD frequency: 0.00024  dbSNP: rs151078477
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002538344 SCV003704425 uncertain significance Inborn genetic diseases 2022-11-07 criteria provided, single submitter clinical testing The c.5582C>T (p.P1861L) alteration is located in exon 10 (coding exon 10) of the WDR81 gene. This alteration results from a C to T substitution at nucleotide position 5582, causing the proline (P) at amino acid position 1861 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003311901 SCV004010543 uncertain significance not provided 2023-04-01 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000845093 SCV000986944 not provided Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 07/26/2017 by GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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