ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.1531G>A (p.Asp511Asn)

gnomAD frequency: 0.00001  dbSNP: rs387907083
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001250231 SCV001424512 pathogenic Primary microcephaly type 2 criteria provided, single submitter clinical testing
GeneDx RCV003332085 SCV004040078 pathogenic not provided 2023-10-01 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect on microtubule localization (Lim et al., 2015); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23065275, 21496009, 28756000, 24228726, 28377545, 30706430, 28940170, 30086807, 31258591, 25303973, 25501809, 20890279, 21961505, 31696992, 34402213, 33083013, 35726608, 34137789, 33937237)
OMIM RCV000024031 SCV000045322 pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2010-11-01 no assertion criteria provided literature only
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles RCV000024031 SCV001481954 likely pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2020-01-01 no assertion criteria provided clinical testing

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