ClinVar for MedGen (Select 767376) - ClinVar - NCBI

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Items: 11

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24337441.	NM_052865.4(MGME1):c.203C>G (p.Thr68Ser) GRCh37: Chr20:17950705 GRCh38: Chr20:17970062	LOC126862983, MGME1	T68S	Mitochondrial DNA depletion syndrome 11	Uncertain significance (Jan 20, 2021)	criteria provided, single submitter
Select item 13683092.	NM_052865.4(MGME1):c.659G>A (p.Arg220Gln) GRCh37: Chr20:17956474 GRCh38: Chr20:17975831	MGME1	R220Q, R235Q, R140Q	not provided, Inborn genetic diseases, Mitochondrial DNA depletion syndrome 11	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10290423.	NM_052865.4(MGME1):c.1018C>A (p.Pro340Thr) GRCh37: Chr20:17970735 GRCh38: Chr20:17990092	MGME1	T222N, P340T, P260T, P355T	Mitochondrial DNA depletion syndrome 11	Uncertain significance (Oct 2, 2020)	criteria provided, single submitter
Select item 9847214.	NM_052865.4(MGME1):c.55_57del (p.Ser19del) GRCh37: Chr20:17950556-17950558 GRCh38: Chr20:17969913-17969915	LOC126862983, MGME1	S19del	Mitochondrial DNA depletion syndrome 11, not provided	Uncertain significance (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 7117565.	NM_052865.4(MGME1):c.242C>G (p.Pro81Arg) GRCh37: Chr20:17950744 GRCh38: Chr20:17970101	LOC126862983, MGME1	P81R	not provided, Mitochondrial DNA depletion syndrome 11	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4456046.	NM_052865.4(MGME1):c.532C>T (p.Arg178Trp) GRCh37: Chr20:17956347 GRCh38: Chr20:17975704	MGME1	R193W, R178W, R98W	not provided	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 4285887.	NM_052865.4(MGME1):c.359del (p.Pro120fs) GRCh37: Chr20:17950860 GRCh38: Chr20:17970217	LOC126862983, MGME1	P120fs	Mitochondrial DNA depletion syndrome 11	Pathogenic (May 7, 2017)	no assertion criteria provided
Select item 3800418.	NM_052865.4(MGME1):c.43A>T (p.Ser15Cys) GRCh37: Chr20:17950545 GRCh38: Chr20:17969902	LOC126862983, MGME1	S15C	not provided, not specified, Mitochondrial DNA depletion syndrome 11	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2354259.	NM_052865.4(MGME1):c.794C>T (p.Thr265Ile) GRCh37: Chr20:17968871 GRCh38: Chr20:17988228	MGME1	T280I, T265I, T185I	Mitochondrial DNA depletion syndrome 11, not specified, not provided	Benign/Likely benign (Feb 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4005210.	NM_052865.4(MGME1):c.698A>G (p.Tyr233Cys) GRCh37: Chr20:17956513 GRCh38: Chr20:17975870	MGME1	Y233C, Y248C, Y153C	Mitochondrial DNA depletion syndrome 11	Pathogenic (Feb 1, 2013)	no assertion criteria provided
Select item 4005111.	NM_052865.4(MGME1):c.456G>A (p.Trp152Ter) GRCh37: Chr20:17950958 GRCh38: Chr20:17970315	LOC126862983, MGME1	W152*	Mitochondrial DNA depletion syndrome 11	Likely pathogenic (Jan 17, 2020)	criteria provided, single submitter