ClinVar Miner

Submissions for variant NM_001151.4(SLC25A4):c.238C>G (p.Arg80Gly)

dbSNP: rs1560841701
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000785891 SCV000924467 likely pathogenic Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant 2018-06-15 criteria provided, single submitter research The heterozygous p.Arg80Gly variant was identified by our study in one individual with mitochondrial DNA depletion syndrome. Trio exome analysis showed this variant to be de novo. This variant was absent from large population studies, and the Arginine (Arg) at position 80 is highly conserved in mammals and evolutionarily distant species, supporting that a change at this position may not be tolerated. In summary, although additional studies are required to fully establish its pathogenicity, this variant is likely pathogenic.

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