Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • See Evidence submitted by expert panel for details.

Variant: NM_014297.5(ETHE1):c.371G>T (p.Arg124Leu)

CA9487892

329442 (ClinVar)

Gene: ETHE1
Condition: ethylmalonic encephalopathy
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: c1040707-402e-473a-b8de-14ee9061cfe4
Approved on: 2020-08-18
Published on: 2021-10-22

HGVS expressions

NM_014297.5:c.371G>T
NM_014297.5(ETHE1):c.371G>T (p.Arg124Leu)
NC_000019.10:g.43526205C>A
CM000681.2:g.43526205C>A
NC_000019.9:g.44030357C>A
CM000681.1:g.44030357C>A
NC_000019.8:g.48722197C>A
NG_008141.1:g.6040G>T
ENST00000292147.7:c.371G>T
ENST00000292147.6:c.371G>T
ENST00000458714.2:c.-99C>A
ENST00000594342.5:c.226+310G>T
ENST00000595115.1:n.589G>T
ENST00000598330.1:c.226+310G>T
ENST00000600651.5:c.371G>T
ENST00000602138.1:c.*375G>T
NM_014297.3:c.371G>T
NM_001320867.1:c.338G>T
NM_001320868.1:c.6+310G>T
NM_001320869.1:c.81+892G>T
NM_014297.4:c.371G>T
NM_001320867.2:c.338G>T
NM_001320868.2:c.6+310G>T
NM_001320869.2:c.81+892G>T
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Uncertain Significance

The Expert Panel has overridden the computationally generated classification - "[unknown]"
Not Met criteria codes 10
BA1 BS2 BS3 BS1 BP4 PS3 PS1 PP3 PM5 PM2

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Mitochondrial Diseases VCEP
This variant was classified as a variant of uncertain significance as there has not been sufficient evidence to support either a benign or a pathogenic classification. Specifically, this variant has not been reported in the literature in affected or unaffected patients, has no published functional data, and although present in population databases with an allele frequency of 0.009%, it does not meet any of the cutoffs supporting a pathogenic or benign classification.
Not Met criteria codes
BA1
Allele frequency as per EXAC is 0.009% which is well below the proposed ETHE1 cutoff of >0.1%
BS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS3
No published functional studies regarding pathogenicity of this variant
BS1
Allele frequency as per EXAC is 0.009% which is below the proposed ETHE1 cutoff of >0.01%
BP4
computational models present conflicting predictions regarding the deleterious/benign effect of this variant. REVEL score of 0.443
PS3
No published functional studies regarding pathogenicity of this variant
PS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP3
computational models present conflicting predictions regarding the deleterious/benign effect of this variant
PM5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM2
Allele frequency as per EXAC is 0.009% which is higher than the proposed ETHE1 cutoff of 0.002%
Curation History
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