ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.3878C>A (p.Ala1293Asp)

gnomAD frequency: 0.00002  dbSNP: rs868263026
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000778911 SCV000915320 uncertain significance Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2017-08-10 criteria provided, single submitter clinical testing The WDR62 c.3878C>A (p.Ala1293Asp) missense variant has been reported in two studies in which it is found in a homozygous state in two siblings who were born to consanguineous parents and exhibited primary microcephaly, intellectual disability, delayed psychomotor development and walking difficulty, speech impediments and seizures. Each unaffected parent was a heterozygous carrier of the variant, and a four-generation pedigree was consistent with autosomal recessive inheritance (Naseer et al. 2017). It was also reported in a study of 149 patients with suspected Mendelian, mainly neurocognitive phenotypes, but no allele or phenotype information was provided (Yavarna et al. 2017). The p.Ala1293Asp variant was absent from 100 healthy control individuals (Naseer et al. 2017) and is reported at a frequency of 0.000009 in the European (non-Finnish) population of the Genome Aggregation Consortium, but this frequency is based on one allele only; therefore, the variant is presumed to be rare. Based on the evidence, the p.Ala1293Asp variant is classified as a variant of unknown significance but suspicious for pathogenicity for primary microcephaly 2 with or without cortical malformations. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Baylor Genetics RCV000778911 SCV001523673 uncertain significance Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2020-01-23 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV001508856 SCV001715267 uncertain significance not provided 2019-04-07 criteria provided, single submitter clinical testing

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