ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.3271_3273del (p.His1091del)

dbSNP: rs794727435
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176723 SCV000228430 benign not specified 2014-07-25 criteria provided, single submitter clinical testing
GeneDx RCV001721112 SCV000572246 likely benign not provided 2020-02-18 criteria provided, single submitter clinical testing
Invitae RCV001721112 SCV002282456 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing This variant, c.3271_3273del, results in the deletion of 1 amino acid(s) of the WDR62 protein (p.His1091del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs776389758, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with WDR62-related conditions. ClinVar contains an entry for this variant (Variation ID: 196011). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002516712 SCV003526125 uncertain significance Inborn genetic diseases 2021-07-02 criteria provided, single submitter clinical testing The c.3271_3273delCAC (p.H1091del) alteration is located in exon 27 (coding exon 27) of the WDR62 gene. This alteration consists of an in-frame deletion of 3 nucleotides between nucleotide positions c.3271 and c.3273, resulting in the deletion of 1 residue. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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