ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.118A>G (p.Ile40Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003246821 SCV003951355 uncertain significance Inborn genetic diseases 2023-03-27 criteria provided, single submitter clinical testing The c.118A>G (p.I40V) alteration is located in exon 1 (coding exon 1) of the WDR62 gene. This alteration results from a A to G substitution at nucleotide position 118, causing the isoleucine (I) at amino acid position 40 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001255791 SCV001432405 likely benign Microcephaly 2, primary, autosomal recessive, with or without cortical malformations no assertion criteria provided clinical testing

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