ClinVar Miner

Submissions for variant NM_001163809.2(WDR81):c.4778T>C (p.Leu1593Pro)

gnomAD frequency: 0.00015  dbSNP: rs149405514
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002227638 SCV002506693 uncertain significance Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2; Hydrocephalus, congenital, 3, with brain anomalies 2021-05-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV003164323 SCV003863988 uncertain significance Inborn genetic diseases 2023-03-01 criteria provided, single submitter clinical testing The c.4778T>C (p.L1593P) alteration is located in exon 7 (coding exon 7) of the WDR81 gene. This alteration results from a T to C substitution at nucleotide position 4778, causing the leucine (L) at amino acid position 1593 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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