ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.3731_3740del (p.Thr1244fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002751338 SCV003027720 pathogenic not provided 2023-06-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr1244Serfs*51) in the WDR62 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WDR62 are known to be pathogenic (PMID: 20729831). This variant is present in population databases (rs767667321, gnomAD 0.02%). 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: 1981207). For these reasons, this variant has been classified as Pathogenic.
3billion RCV003152802 SCV003841641 pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2023-02-23 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.002%). This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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