ClinVar Miner

Variants from Houlden Lab, UCL Institute of Neurology with conflicting interpretations

Location: United Kingdom  Primary collection method: research
Minimum review status of the submission from Houlden Lab, UCL Institute of Neurology: Collection method of the submission from Houlden Lab, UCL Institute of Neurology:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
35 0 0 11 0 0 8 19

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Houlden Lab, UCL Institute of Neurology pathogenic likely pathogenic uncertain significance
pathogenic 0 5 1
likely pathogenic 6 0 6
uncertain significance 1 1 0

Submitter to submitter summary #

Total submitters: 11
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
OMIM 0 1 0 4 0 0 1 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 0 1 0 0 2 3
GeneDx 0 0 0 1 0 0 1 2
Revvity Omics, Revvity 0 0 0 0 0 0 2 2
3billion 0 0 0 1 0 0 1 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 0 1 0 0 1 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 0 0 1 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu) rs145039072 0.00042
NM_024063.3(AFG2B):c.1199C>T (p.Thr400Ile) rs1372719653 0.00002
NM_025150.5(TARS2):c.968T>G (p.Phe323Cys) rs760208518 0.00002
NM_012318.3(LETM1):c.1178G>A (p.Arg393His) rs201808137 0.00001
NM_016188.5(ACTL6B):c.893G>A (p.Arg298Gln) rs1060499738 0.00001
NM_025150.5(TARS2):c.1036C>T (p.Arg346Cys) rs749476185 0.00001
NM_025150.5(TARS2):c.326G>A (p.Arg109Gln) rs760526545 0.00001
NM_025150.5(TARS2):c.387+6T>C rs1064797119 0.00001
NM_012318.3(LETM1):c.2220G>C (p.Ter740Tyr) rs2108832865
NM_012318.3(LETM1):c.898C>T (p.Pro300Ser) rs2108846393
NM_016188.5(ACTL6B):c.1027G>T (p.Gly343Trp)
NM_016188.5(ACTL6B):c.1087C>T (p.Arg363Ter) rs755138493
NM_016188.5(ACTL6B):c.1120C>T (p.Arg374Ter)
NM_016188.5(ACTL6B):c.1219T>C (p.Trp407Arg) rs2131330754
NM_016188.5(ACTL6B):c.695dup (p.Asn233fs)
NM_025150.5(TARS2):c.1026G>C (p.Glu342Asp)
NM_025150.5(TARS2):c.2051G>A (p.Arg684Gln) rs1322913410
NM_025150.5(TARS2):c.2140G>A (p.Ala714Thr) rs1064797120
NM_025150.5(TARS2):c.774+5G>T

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