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NM_000017.4(ACADS):c.1095G>T (p.Gln365His)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 12, 2020
Accession:
VCV000203560.7
Variation ID:
203560
Description:
single nucleotide variant
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NM_000017.4(ACADS):c.1095G>T (p.Gln365His)

Allele ID
200243
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.31
Genomic location
12: 120739304 (GRCh38) GRCh38 UCSC
12: 121177107 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.121177107G>T
NC_000012.12:g.120739304G>T
NM_000017.4:c.1095G>T MANE Select NP_000008.1:p.Gln365His missense
... more HGVS
Protein change
Q365H, Q361H
Other names
p.Q365H:CAG>CAT
Canonical SPDI
NC_000012.12:120739303:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00003
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
The Genome Aggregation Database (gnomAD) 0.00010
Links
ClinGen: CA312228
dbSNP: rs368469075
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Mar 6, 2018 RCV000185694.4
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Jul 12, 2020 RCV000411694.6
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACADS - - GRCh38
GRCh37
237 254

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 06, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000238615.13
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The Q365H variant has previously been reported in association with short chain acyl-CoAdehydrogenase (SCAD) deficiency (Seidel et al., 2003). Functional analysis of Q365H found that … (more)
Likely pathogenic
(Jan 10, 2019)
criteria provided, single submitter
Method: clinical testing
Deficiency of butyryl-CoA dehydrogenase
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000914567.1
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (2)
Comment:
The ACADS c.1095G>T (p.Gln365His) missense variant has been reported in two studies in which it is found in a compound heterozygous state with another missense … (more)
Uncertain significance
(Jul 12, 2020)
criteria provided, single submitter
Method: clinical testing
Deficiency of butyryl-CoA dehydrogenase
Allele origin: germline
Invitae
Accession: SCV000952058.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces glutamine with histidine at codon 365 of the ACADS protein (p.Gln365His). The glutamine residue is highly conserved and there is a … (more)
Likely pathogenic
(Jul 21, 2016)
no assertion criteria provided
Method: clinical testing
Deficiency of butyryl-CoA dehydrogenase
Allele origin: unknown
Counsyl
Accession: SCV000486661.2
Submitted: (Aug 05, 2019)
Evidence details
Publications
PubMed (6)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening. Waisbren SE Developmental disabilities research reviews 2013 PMID: 23798014
Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center's experience. Pena L Genetics in medicine : official journal of the American College of Medical Genetics 2012 PMID: 22241096
Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening. Jethva R Molecular genetics and metabolism 2008 PMID: 18951053
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. Pedersen CB Human genetics 2008 PMID: 18523805
Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency. Pedersen CB The Journal of biological chemistry 2003 PMID: 14506246
Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene. Seidel J Journal of inherited metabolic disease 2003 PMID: 12872838

Text-mined citations for rs368469075...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Mar 22, 2021