ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.9302T>G (p.Val3101Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002463579 SCV002600894 uncertain significance Microcephaly 18, primary, autosomal dominant 2022-09-21 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 61 of the WDFY3 gene that results in the amino acid substitution of Glycine for Valine at codon 3101 was detected . The p.Val3101Gly variant has not been reported in the 1000 genomes, gnomAD and our internal databases. The in silico predictions# of the variant are damaging by SIFT and LRT. The reference codon is conserved across mammals.

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