ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.250dup (p.His84fs)

dbSNP: rs1234259290
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002052105 SCV002318553 pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2022-03-22 criteria provided, single submitter clinical testing Frameshift: 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. The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency:0.0000040). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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