ClinVar Miner

Submissions for variant NM_017646.6(TRIT1):c.528G>T (p.Lys176Asn)

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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 RCV004723702 SCV005329411 uncertain significance Combined oxidative phosphorylation deficiency 35 2023-05-20 criteria provided, single submitter clinical testing The observed missense c.528G>T(p.Lys176Asn) variant in TRIT1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency of 0.006% in the gnomAD Exomes. The amino acid Lys at position 176 is changed to a Asn changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Lys176Asn in TRIT1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Computational evidence (Polyphen - Benign, SIFT - Damaging, 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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