ClinVar Miner

Submissions for variant NM_024678.6(NARS2):c.100C>G (p.Leu34Val)

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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 RCV002510758 SCV002820326 uncertain significance Combined oxidative phosphorylation defect type 24 criteria provided, single submitter clinical testing The missense variant p.L34V in NARS2 (NM_024678.6) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.L34V variant is observed in 5/30,616 (0.0163%) alleles from individuals of South Asian background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. In silico tools predict a damaging effect and the residue is conserved across species. For these reasons, this variant has been classified as Uncertain Significance.

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