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NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 27, 2023
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:
RCV003226399.1

Allele description [Variation Report for NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr)]

NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr)

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.1064T>C (p.Ile355Thr)
HGVS:
  • NC_000017.11:g.7222852T>C
  • NG_007975.1:g.8019T>C
  • NG_008391.2:g.2199A>G
  • NM_000018.4:c.1064T>CMANE SELECT
  • NM_001033859.3:c.998T>C
  • NM_001270447.2:c.1133T>C
  • NM_001270448.2:c.836T>C
  • NP_000009.1:p.Ile355Thr
  • NP_001029031.1:p.Ile333Thr
  • NP_001257376.1:p.Ile378Thr
  • NP_001257377.1:p.Ile279Thr
  • NC_000017.10:g.7126171T>C
  • NM_000018.3:c.1064T>C
Protein change:
I279T
Links:
dbSNP: rs1351976589
NCBI 1000 Genomes Browser:
rs1351976589
Molecular consequence:
  • NM_000018.4:c.1064T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001033859.3:c.998T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270447.2:c.1133T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270448.2:c.836T>C - 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
SCV003922433Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Mar 27, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.

Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ.

Mol Genet Metab. 2015 Nov;116(3):139-45. doi: 10.1016/j.ymgme.2015.08.011. Epub 2015 Sep 2.

PubMed [citation]
PMID:
26385305
PMCID:
PMC4790081

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003922433.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant summary: ACADVL c.1064T>C (p.Ile355Thr) results in a non-conservative amino acid change located in the Acyl-CoA dehydrogenase/oxidase C-terminal domain (IPR009075) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 250672 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1064T>C has been reported in the literature in individuals affected with Very Long Chain Acyl-CoA Dehydrogenase Deficiency (Miller_2015). The report does not provide unequivocal conclusions about association of the variant with Very Long Chain Acyl-CoA Dehydrogenase Deficiency. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two ClinVar submitters (evaluation after 2014) cite this variant as pathogenic and uncertain significance. 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: Sep 29, 2024