ClinVar Miner

Submissions for variant NM_020791.4(TAOK1):c.1135A>G (p.Ser379Gly)

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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 RCV004764866 SCV005374745 uncertain significance Developmental delay with or without intellectual impairment or behavioral abnormalities criteria provided, single submitter clinical testing The observed missense c.1135A>G(p.Ser379Gly) variant in TAOK1 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 Ser at position 379 is changed to a Gly changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Ser379Gly in TAOK1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Computational evidence (Polyphen - Benign, SIFT - Tolerated, and MutationTaster - Disease causing) predicts conflicting evidence on protein structure and function for this variant. For these reasons, this variant has been classified as Uncertain Significance.

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