Submissions for variant NM_018122.5(DARS2):c.742C>T (p.Gln248Ter)

dbSNP: rs772489337

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001587467	SCV001825059	pathogenic	not provided	2019-07-31	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Gene Discovery Core-Manton Center, Boston Children's Hospital	RCV001548761	SCV001768723	pathogenic	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	2020-02-14	no assertion criteria provided	research	This variant is interpretted as Pathogenic for Leukoencephalopathy, brain & spine involvement, lactate elevation; Autosomal recessive; PVS1 - null variant (nonsense, frameshift, canonical splice sites, initiation codon, single or multiexon deletion) in a gene where LOF is a known mechanism of disease. PM2 - Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 - Multiple lines of computational evidence support a deleterious effect on the gene or gene product