ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.7297_7298insC (p.Val2433fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV004556029 SCV005045189 pathogenic Microcephaly 18, primary, autosomal dominant 2024-04-19 criteria provided, single submitter clinical testing The WDFY3 c.7297_7298insC (p.Val2433Alafs*4) variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. This variant causes a frameshift by inserting a single nucleotide, leading to a premature termination codon, which is predicted to lead to nonsense mediated decay. Furthermore, several loss of function variants downstream of this variant have been observed in affected individuals (Le Duc D et al., PMID: 31406988). Based on available information and the ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), this variant is classified as pathogenic.

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