Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
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, |
RCV001508856 | SCV001715267 | uncertain significance | not provided | 2019-04-07 | criteria provided, single submitter | clinical testing |