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NM_000018.4(ACADVL):c.725C>T (p.Thr242Ile) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 21, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001260359.1

Allele description [Variation Report for NM_000018.4(ACADVL):c.725C>T (p.Thr242Ile)]

NM_000018.4(ACADVL):c.725C>T (p.Thr242Ile)

Gene:
ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000018.4(ACADVL):c.725C>T (p.Thr242Ile)
HGVS:
  • NC_000017.11:g.7222054C>T
  • NG_007975.1:g.7221C>T
  • NG_008391.2:g.2997G>A
  • NM_000018.4:c.725C>TMANE SELECT
  • NM_001033859.3:c.659C>T
  • NM_001270447.2:c.794C>T
  • NM_001270448.2:c.497C>T
  • NP_000009.1:p.Thr242Ile
  • NP_001029031.1:p.Thr220Ile
  • NP_001257376.1:p.Thr265Ile
  • NP_001257377.1:p.Thr166Ile
  • NC_000017.10:g.7125373C>T
  • NM_000018.2:c.725C>T
  • NM_000018.3:c.725C>T
Protein change:
T166I
Links:
dbSNP: rs769631635
NCBI 1000 Genomes Browser:
rs769631635
Molecular consequence:
  • NM_000018.4:c.725C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001033859.3:c.659C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270447.2:c.794C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270448.2:c.497C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001437304Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Sep 21, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001437304.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: ACADVL c.725C>T (p.Thr242Ile) results in a non-conservative amino acid change located in the Acyl-CoA oxidase/dehydrogenase, central domain (IPR006091) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 251488 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.725C>T in individuals affected with Very Long Chain Acyl-CoA Dehydrogenase Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024