ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.2746_2747del (p.Gln918fs)

dbSNP: rs764201220
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000024036 SCV001653012 pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2020-06-08 criteria provided, single submitter clinical testing The p.Gln918GlyfsX18 variant WDR62 has been reported in 2 siblings with autosomal recessive microcephaly/polymicrogyria in a compound heterozygous state with another frameshift variant (Murdock 2011 PMID: 21834044). It was also identified in 1/113224 of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 918 and leads to a premature termination codon 18 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the WDR62 gene is strongly associated with autosomal recessive primary microcephaly/polymicrogyria. In summary, this variant meets criteria to be classified as pathogenic for autosomal recessive primary microcephaly. ACMG/AMP Criteria applied: PM2, PVS1, PP1, PM3.
Revvity Omics, Revvity RCV000024036 SCV002020901 pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2021-01-08 criteria provided, single submitter clinical testing
GeneDx RCV003229803 SCV003927500 pathogenic not provided 2023-05-23 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 21834044)
OMIM RCV000024036 SCV000045327 pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2011-09-01 no assertion criteria provided literature only

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