ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.682G>A (p.Val228Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004821458 SCV005442704 uncertain significance Snijders Blok-Campeau syndrome 2023-06-22 criteria provided, single submitter clinical testing The observed missense c.682G>A p.Val228Ile variant in CHD3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Val228Ile variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidence Polyphen - Benign, SIFT - Tolerated and MutationTaster - Disease causing predicts conflicting evidence on protein structure and function for this variant. The reference amino acid on CHD3 gene is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Val at position 228 is changed to a Ile changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance VUS.

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