ClinVar Miner

Submissions for variant NM_012140.5(SLC25A10):c.304A>T (p.Lys102Ter)

dbSNP: rs1555703272
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Computational Biology Unit, University of Bari RCV000516166 SCV000611119 likely pathogenic Mitochondrial complex I deficiency criteria provided, single submitter research
SIB Swiss Institute of Bioinformatics RCV001251077 SCV001571204 likely pathogenic Mitochondrial DNA depletion syndrome 19 2021-04-01 criteria provided, single submitter curation This variant is interpreted as a likely pathogenic for Mitochondrial DNA depletion syndrome 19, autosomal recessive. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Predicted nullvariant in a gene where LOF is a known mechanism of disease (PVS1 downgraded to moderate); Well-established functional studies show a deleterious effect (PS3 downgraded to moderate).
OMIM RCV001251077 SCV001426466 pathogenic Mitochondrial DNA depletion syndrome 19 2020-11-10 no assertion criteria provided literature only

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