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NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Apr 27, 2021)
Last evaluated:
Apr 8, 2021
Accession:
VCV000587952.7
Variation ID:
587952
Description:
single nucleotide variant
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NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu)

Allele ID
579746
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.4
Genomic location
11: 71435613 (GRCh38) GRCh38 UCSC
11: 71146659 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.71146659G>A
NM_001360.2:c.1190C>T NP_001351.2:p.Ser397Leu missense
NC_000011.10:g.71435613G>A
... more HGVS
Protein change
S397L
Other names
-
Canonical SPDI
NC_000011.10:71435612:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
dbSNP: rs773134475
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Apr 8, 2021 RCV000805883.4
Likely pathogenic 1 criteria provided, single submitter Jun 20, 2016 RCV000716033.1
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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
493 505

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 20, 2016)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000846866.3
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (4)
Comment:
The p.S397L variant (also known as c.1190C>T), located in coding exon 7 of the DHCR7 gene, results from a C to T substitution at nucleotide … (more)
Likely pathogenic
(Apr 08, 2021)
criteria provided, single submitter
Method: clinical testing
Smith-Lemli-Opitz syndrome
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001572512.1
Submitted: (Apr 27, 2021)
Evidence details
Publications
PubMed (5)
Comment:
Variant summary: DHCR7 c.1190C>T (p.Ser397Leu) results in a non-conservative amino acid change located in the fourth cytoplasmic loop domain of the encoded protein sequence. Five … (more)
Pathogenic
(Aug 27, 2020)
criteria provided, single submitter
Method: clinical testing
Smith-Lemli-Opitz syndrome
Allele origin: germline
Invitae
Accession: SCV000945858.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces serine with leucine at codon 397 of the DHCR7 protein (p.Ser397Leu). The serine residue is highly conserved and there is a … (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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Title Author Journal Year Link
Smith-Lemli-Opitz syndrome: clinical and biochemical correlates. Donoghue SE Journal of pediatric endocrinology & metabolism : JPEM 2018 PMID: 29455191
Mutational spectrum of smith-lemli-opitz syndrome patients in hungary. Balogh I Molecular syndromology 2012 PMID: 23293579
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey. Kalb S Clinical genetics 2012 PMID: 22211794
DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. Ciara E Clinical genetics 2004 PMID: 15521979
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. Witsch-Baumgartner M American journal of human genetics 2000 PMID: 10677299

Text-mined citations for rs773134475...

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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 Oct 24, 2021