ClinVar for MedGen (Select 904073) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 14

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24293731.	NM_145199.3(LIPT1):c.578T>C (p.Leu193Pro) GRCh37: Chr2:99778998 GRCh38: Chr2:99162535	LIPT1, MITD1	L193P	Lipoyl transferase 1 deficiency	Uncertain significance (Jan 25, 2023)	criteria provided, single submitter
Select item 18029922.	NM_145199.3(LIPT1):c.316G>A (p.Val106Ile) GRCh37: Chr2:99778736 GRCh38: Chr2:99162273	LIPT1, MITD1	V106I	See cases, Lipoyl transferase 1 deficiency	Uncertain significance	criteria provided, multiple submitters, no conflicts
Select item 9734433.	NM_145199.3(LIPT1):c.539T>C (p.Leu180Ser) GRCh37: Chr2:99778959 GRCh38: Chr2:99162496	LIPT1, MITD1	L180S	Lipoyl transferase 1 deficiency	Uncertain significance (Apr 1, 2020)	criteria provided, single submitter
Select item 4335604.	NM_015929.3(LIPT1):c.[131A>G];[875C>G]			Lipoyl transferase 1 deficiency	Pathogenic (Aug 14, 2017)	no assertion criteria provided
Select item 4335595.	NM_145199.3(LIPT1):c.131A>G (p.Asn44Ser) GRCh37: Chr2:99778551 GRCh38: Chr2:99162088	LIPT1, MITD1	N44S	Lipoyl transferase 1 deficiency, Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Aug 5, 2022)	criteria provided, conflicting interpretations
Select item 4247856.	NM_145199.2(LIPT1):c.[806G>A];[980T>G]			Lipoyl transferase 1 deficiency	Pathogenic (Feb 18, 2014)	criteria provided, single submitter
Select item 4203627.	NM_145199.3(LIPT1):c.369del (p.Lys123fs) GRCh37: Chr2:99778789 GRCh38: Chr2:99162326	MITD1, LIPT1	K123fs	Hypotonia, Abnormal optic nerve morphology, Abnormal cardiovascular system morphology, Failure to thrive, Hearing impairment, Lipoyl transferase 1 deficiency, not provided, not specified	Conflicting interpretations of pathogenicity (Apr 18, 2023)	criteria provided, conflicting interpretations
Select item 3799928.	NM_145199.3(LIPT1):c.711T>C (p.Ala237=) GRCh37: Chr2:99779131 GRCh38: Chr2:99162668	LIPT1, MITD1		not specified, Lipoyl transferase 1 deficiency, not provided	Benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3799919.	NM_145199.3(LIPT1):c.565T>C (p.Leu189=) GRCh37: Chr2:99778985 GRCh38: Chr2:99162522	LIPT1, MITD1		not specified, Lipoyl transferase 1 deficiency, not provided	Benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28587110.	NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter) GRCh37: Chr2:99779295 GRCh38: Chr2:99162832	LIPT1, MITD1	S292*	Lipoyl transferase 1 deficiency, not provided	Pathogenic/Likely pathogenic (May 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24252611.	NM_145199.2(LIPT1):c.806G>A GRCh37: Chr2:99779226 GRCh38: Chr2:99162763	MITD1, LIPT1	W269*	Lipoyl transferase 1 deficiency	Likely pathogenic	criteria provided, single submitter
Select item 18983612.	NM_145199.3(LIPT1):c.292C>G (p.Arg98Gly) GRCh37: Chr2:99778712 GRCh38: Chr2:99162249	LIPT1, MITD1	R98G	not provided	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 18983513.	NM_145199.3(LIPT1):c.212C>T (p.Ser71Phe) GRCh37: Chr2:99778632 GRCh38: Chr2:99162169	LIPT1, MITD1	S71F	Lipoyl transferase 1 deficiency, not provided	Likely pathogenic (Apr 1, 2020)	criteria provided, multiple submitters, no conflicts
Select item 18983414.	NM_145199.3(LIPT1):c.535A>G (p.Thr179Ala) GRCh37: Chr2:99778955 GRCh38: Chr2:99162492	LIPT1, MITD1	T179A	Lipoyl transferase 1 deficiency	Pathogenic (Dec 17, 2013)	no assertion criteria provided