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NM_001360.3(DHCR7):c.1349G>A (p.Arg450His)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Aug 10, 2021)
Last evaluated:
Sep 2, 2020
Accession:
VCV000558558.6
Variation ID:
558558
Description:
single nucleotide variant
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NM_001360.3(DHCR7):c.1349G>A (p.Arg450His)

Allele ID
546307
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.4
Genomic location
11: 71435454 (GRCh38) GRCh38 UCSC
11: 71146500 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.71435454C>T
NC_000011.9:g.71146500C>T
NG_012655.2:g.17978G>A
... more HGVS
Protein change
R450H
Other names
-
Canonical SPDI
NC_000011.10:71435453:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00005
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00010
Links
dbSNP: rs542266962
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts May 30, 2018 RCV000674850.2
Uncertain significance 1 criteria provided, single submitter May 24, 2017 RCV000718621.1
Likely pathogenic 1 criteria provided, single submitter Sep 2, 2020 RCV001556929.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DHCR7 - - GRCh38
GRCh37
499 511

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 30, 2018)
criteria provided, single submitter
Method: clinical testing
Smith-Lemli-Opitz syndrome
Allele origin: unknown
Counsyl
Accession: SCV000800251.1
Submitted: (Jul 10, 2018)
Evidence details
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Smith-Lemli-Opitz syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001268262.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(May 24, 2017)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000849485.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.R450H variant (also known as c.1349G>A), located in coding exon 7 of the DHCR7 gene, results from a G to A substitution at nucleotide … (more)
Likely pathogenic
(Sep 02, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001778601.1
Submitted: (Aug 10, 2021)
Evidence details
Comment:
Identified by exome sequencing in one individual from a cohort of patients with autism, however additional clinical information on this patient was not provided and … (more)

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs542266962...

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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 Dec 04, 2021