Submissions for variant NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg)

gnomAD frequency: 0.01472  dbSNP: rs74874677

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124677	SCV000168111	benign	not specified	2011-09-20	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences	RCV000124677	SCV000315370	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000124677	SCV000340761	benign	not specified	2016-05-19	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000677030	SCV000603302	benign	not provided	2023-10-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001139590	SCV001299764	likely benign	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV000677030	SCV001724913	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000677030	SCV002544052	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	DGUOK: BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV002498597	SCV002812563	likely benign	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4; Portal hypertension, noncirrhotic, 1	2022-02-22	criteria provided, single submitter	clinical testing
OMIM	RCV000239473	SCV000297865	pathogenic	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	2016-08-18	no assertion criteria provided	literature only
Mayo Clinic Laboratories, Mayo Clinic	RCV000677030	SCV000802864	uncertain significance	not provided	2016-02-23	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000124677	SCV001741401	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000677030	SCV001920619	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000677030	SCV001926905	likely benign	not provided		no assertion criteria provided	clinical testing