ClinVar Miner

Variants in gene SPTLC1 with conflicting interpretations

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
163 17 3 8 7 0 2 18

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
pathogenic 3 1 2 1 0
likely pathogenic 1 0 0 0 0
uncertain significance 2 0 0 6 1
likely benign 1 0 6 0 7
benign 0 0 1 7 0

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
NM_006415.4(SPTLC1):c.*124A>G rs189582528
NM_006415.4(SPTLC1):c.1055C>T (p.Ala352Val) rs267607088
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu) rs142153571
NM_006415.4(SPTLC1):c.1221A>G (p.Gln407=) rs201413090
NM_006415.4(SPTLC1):c.1255-7C>T rs7863487
NM_006415.4(SPTLC1):c.1329-9T>C rs778388513
NM_006415.4(SPTLC1):c.1402G>T (p.Ala468Ser) rs748723735
NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile) rs141292904
NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr) rs119482081
NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp) rs119482082
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) rs119482083
NM_006415.4(SPTLC1):c.452G>T (p.Arg151Leu) rs45461899
NM_006415.4(SPTLC1):c.501A>G (p.Gly167=) rs139980134
NM_006415.4(SPTLC1):c.58-9C>T rs769188151
NM_006415.4(SPTLC1):c.640A>G (p.Met214Val) rs781435924
NM_006415.4(SPTLC1):c.781-6A>G rs138268337

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