ClinVar Miner

Submissions for variant NM_024678.6(NARS2):c.892T>A (p.Cys298Ser)

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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 RCV002281540 SCV002569369 uncertain significance Combined oxidative phosphorylation defect type 24 2022-01-31 criteria provided, single submitter clinical testing A homozygous missense variation c.892T>A in exon 8 of the NARS2 gene that results in the amino acid substitution of Serine for Cysteine at codon 298 (p.Cys298Ser) was detected. The p.Cys298Ser variant has not been reported in the 1000 genomes and gnomAD databases . The in silico predictions of the variant is damaging by SIFT and LRT. The reference codon is conserved across mammals. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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