ClinVar Miner

Variants in gene MTHFR with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
243 12 0 6 5 3 7 16

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.

pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor other
pathogenic 0 4 5 1 1 1 1 1
likely pathogenic 4 0 1 0 0 0 0 0
uncertain significance 5 1 0 3 2 1 2 2
likely benign 1 0 3 0 2 0 0 0
benign 1 0 2 2 0 1 2 3
drug response 1 0 1 0 1 0 1 1
risk factor 1 0 2 0 2 1 0 2
other 1 0 2 0 3 1 2 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
NM_005957.4(MTHFR):c.1129C>T (p.Arg377Cys) rs121434296
NM_005957.4(MTHFR):c.1262G>C (p.Trp421Ser) rs200137991
NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131
NM_005957.4(MTHFR):c.136C>T (p.Arg46Trp) rs138189536
NM_005957.4(MTHFR):c.1761C>T (p.Ala587=) rs115049252
NM_005957.4(MTHFR):c.1959G>A (p.Thr653=) rs45572531
NM_005957.4(MTHFR):c.337G>A (p.Ala113Thr) rs147257424
NM_005957.4(MTHFR):c.348C>T (p.Ala116=) rs144921426
NM_005957.4(MTHFR):c.643_645del (p.Lys215del) rs746353274
NM_005957.4(MTHFR):c.708C>T (p.Phe236=) rs34279942
NM_005957.4(MTHFR):c.767T>A (p.Ile256Asn) rs373398993
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976
NM_005957.5(MTHFR):c.202C>G rs763539350
NM_005957.5(MTHFR):c.379C>T rs769381688
NM_005957.5(MTHFR):c.548G>A rs574132670
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133

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