ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.4234dup (p.Leu1412fs)

dbSNP: rs1599851667
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001009224 SCV001169043 likely pathogenic not provided 2021-01-11 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense-mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Illumina Laboratory Services, Illumina RCV003985097 SCV004801448 likely pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2021-08-06 criteria provided, single submitter clinical testing The WDR62 c.4234dupC p.(Leu1412ProfsTer2) variant causes a shift in the protein reading frame that is predicted to result in premature termination of the protein. Loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay is expected. To our knowledge, this variant has not been reported in the peer-reviewed literature. Variants downstream of the p.(Leu1412ProfsTer2) variant have also been reported (Landrum et al. 2016; Zombor et al. 2019). This variant is reported in the Genome Aggregation Database in one allele at a frequency of 0.000024 in the African/African-American population (version 3.1.2). Based on the available evidence the c.4234dupC p.(Leu1412ProfsTer2) variant is classified as likely pathogenic for microcephaly with or without cortical malformations.

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