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NM_001360.2(DHCR7):c.1A>G (p.Met1Val)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Apr 8, 2019)
Last evaluated:
Jan 1, 2019
Accession:
VCV000006794.3
Variation ID:
6794
Description:
single nucleotide variant
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NM_001360.2(DHCR7):c.1A>G (p.Met1Val)

Allele ID
21833
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.4
Genomic location
11: 71444952 (GRCh38) GRCh38 UCSC
11: 71155998 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.71444952T>C
NC_000011.9:g.71155998T>C
NM_001163817.2:c.1A>G NP_001157289.1:p.Met1Val missense
... more HGVS
Protein change
M1V
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
OMIM: 602858.0020
dbSNP: rs104886033
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 4 criteria provided, multiple submitters, no conflicts Jan 1, 2019 RCV000169384.5
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Nov 13, 2018 RCV000224026.4
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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
284 292

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 07, 2014)
criteria provided, single submitter
Method: literature only
Smith-Lemli-Opitz syndrome
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000220774.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (6)
Pathogenic
(Jan 30, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000280787.2
Submitted: (Oct 05, 2017)
Evidence details
Likely pathogenic
(Jul 20, 2017)
criteria provided, single submitter
Method: clinical testing
Smith-Lemli-Opitz syndrome
Allele origin: germline
Integrated Genetics/Laboratory Corporation of America
Accession: SCV000697854.1
Submitted: (Jan 25, 2018)
Evidence details
Publications
PubMed (4)
Comment:
Variant summary: The DHCR7 c.1A>G (p.Met1Val) variant involves the alteration of a conserved nucleotide. 2/4 in silico tools predict a benign outcome for this variant ... (more)
Likely pathogenic
(Nov 13, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000568697.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.1A>G variant in the DHCR7 gene has been reported previously in two unrelated individuals with mild Smith-Lemli-Optiz syndrome when in trans with a splice ... (more)
Pathogenic
(Jan 01, 2019)
criteria provided, single submitter
Method: clinical testing
Smith-Lemli-Opitz syndrome
Allele origin: unknown
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000923648.1
Submitted: (Apr 08, 2019)
Evidence details
Pathogenic
(Jul 30, 2005)
no assertion criteria provided
Method: literature only
SMITH-LEMLI-OPITZ SYNDROME, MILD
Allele origin: germline
OMIM
Accession: SCV000027392.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)

Citations for this variant

Title Author Journal Year Link
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome. Sparks SE Journal of inherited metabolic disease 2014 PMID: 24500076
No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome. Roullet JB Journal of inherited metabolic disease 2012 PMID: 22391996
Adrenal function in Smith-Lemli-Opitz syndrome. Bianconi SE American journal of medical genetics. Part A 2011 PMID: 21990131
Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol. Pappu AS Journal of lipid research 2006 PMID: 16983147
DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients. Scalco FB American journal of medical genetics. Part A 2005 PMID: 15952211
Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy. Witsch-Baumgartner M Human mutation 2005 PMID: 15776424
Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Wassif CA American journal of human genetics 1998 PMID: 9634533

Record last updated Oct 11, 2019