ClinVar Miner

Submissions for variant NM_024678.6(NARS2):c.1361A>G (p.Gln454Arg)

dbSNP: rs1399346230
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV004789485 SCV001366085 uncertain significance Combined oxidative phosphorylation defect type 24 2020-04-25 criteria provided, single submitter clinical testing A homozygous missense variation in exon 14 of the NARS2 gene that results in the amino acid substitution of Arginine for Glutamine at codon 454 was detected. The observed variant c.1361A>G (p.Gln454Arg) has not been reported in the 1000 genomes and ExAC databases. The in silico prediction of the variant are damaging by LRT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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