Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000330566 | SCV000339504 | likely pathogenic | not provided | 2016-02-17 | criteria provided, single submitter | clinical testing | |
| Breakthrough Genomics, |
RCV004596155 | SCV005088826 | likely pathogenic | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 2020-04-11 | criteria provided, single submitter | clinical testing | This variant is predicted to be damaging by in-silico missense prediction tools (SIFT and Polyphen2). The variant was previously reported in a patient of Portugal origin diagnosed with mitochondrial DNA depletion syndrome and reported as pathogenic article [PMID: 19380071]. |
| Prevention |
RCV003930119 | SCV004740844 | likely pathogenic | DGUOK-related disorder | 2023-10-23 | no assertion criteria provided | clinical testing | The DGUOK c.353G>A variant is predicted to result in the amino acid substitution p.Arg118His. This variant was reported in the heterozygous state with a second plausible causative variant in an individual with mitochondrial DNA depletion syndrome (Diogo et al. 2009. PubMed ID: 19380071). This variant was also reported in the homozygous state in two individuals with hepatic failure (Table S1, Dillon et al. 2018. PubMed ID: 29453417; Doğulu et al. 2021. PubMed ID: 34167177). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-74173943-G-A). Different nucleotide substitutions affecting the same amino acid (p.Arg118Cys and p.Arg118Leu) have been reported in individuals with mitochondrial DNA depletion syndrome (Dimmock et al. 2008. PubMed ID: 18205204; Haudry et al. 2012. PubMed ID: 23141463; Table S4, Yépez et al. 2022. PubMed ID: 35379322). Taken together, the c.353G>A (p.Arg118His) variant is interpreted as likely pathogenic. |