ClinVar Miner

Submissions for variant NM_030631.4(SLC25A21):c.43C>T (p.Arg15Trp)

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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 RCV004771691 SCV005382373 uncertain significance Mitochondrial DNA depletion syndrome 18 2023-05-20 criteria provided, single submitter clinical testing The missense c.43C>T (p.Arg15Trp) variant in the SLC25A21 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. The amino acid Arginine at position 15 is changed to a Tryptophan changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence (Polyphen-Benign, SIFT-Tolerated and MutationTaster-Polymorphism) predict no damaging effect on protein structure and function for this variant. The amino acid Arginine in SLC25A21 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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