ClinVar Miner

Submissions for variant NC_012920.1(MT-ND5):m.12923G>A

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV003150918 SCV003839150 likely pathogenic Leber optic atrophy 2022-10-31 criteria provided, single submitter clinical testing This MT-ND5 variant is absent in a large population dataset and has not been reported in ClinVar or the literature to our knowledge. As single exon genes appear insensitive to nonsense-mediated mRNA decay (NMD), this nonsense variant (p.Trp196Ter) is predicted to result in a truncated protein after the fifth transmembrane domain of MTND5. Factors including random mitochondrial segregation and consequent variable tissue heteroplasmy may contribute to the much broader phenotypic spectrum associated with variants in this gene. . We consider this variant to be likely pathogenic.
Johns Hopkins Genomics, Johns Hopkins University RCV003150917 SCV003839151 likely pathogenic MELAS syndrome 2022-10-31 criteria provided, single submitter clinical testing This MT-ND5 variant is absent in a large population dataset and has not been reported in ClinVar or the literature to our knowledge. As single exon genes appear insensitive to nonsense-mediated mRNA decay (NMD), this nonsense variant (p.Trp196Ter) is predicted to result in a truncated protein after the fifth transmembrane domain of MTND5. Factors including random mitochondrial segregation and consequent variable tissue heteroplasmy may contribute to the much broader phenotypic spectrum associated with variants in this gene. . We consider this variant to be likely pathogenic.
Johns Hopkins Genomics, Johns Hopkins University RCV003150916 SCV003839152 likely pathogenic Leigh syndrome 2022-10-31 criteria provided, single submitter clinical testing This MT-ND5 variant is absent in a large population dataset and has not been reported in ClinVar or the literature to our knowledge. As single exon genes appear insensitive to nonsense-mediated mRNA decay (NMD), this nonsense variant (p.Trp196Ter) is predicted to result in a truncated protein after the fifth transmembrane domain of MTND5. Factors including random mitochondrial segregation and consequent variable tissue heteroplasmy may contribute to the much broader phenotypic spectrum associated with variants in this gene. . We consider this variant to be likely pathogenic.

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