ClinVar Miner

Submissions for variant NM_003587.5(DHX16):c.1990C>T (p.Pro664Ser)

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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 RCV004785913 SCV005401038 uncertain significance Neuromuscular disease and ocular or auditory anomalies with or without seizures 2023-06-22 criteria provided, single submitter clinical testing The observed missense c.1990C>T(p.Pro664Ser) variant in DHX16 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. The amino acid Pro at position 664 is changed to a Ser changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Pro664Ser in DHX16 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Multiple lines of computational evidence (Polyphen - Damaging, SIFT - Damaging, and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. For these reasons, this variant has been classified as Uncertain Significance.

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