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NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 22, 2022
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:
RCV001844225.1

Allele description [Variation Report for NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys)]

NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys)

Gene:
DHCR7:7-dehydrocholesterol reductase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.4
Genomic location:
Preferred name:
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys)
HGVS:
  • NC_000011.10:g.71435719G>A
  • NG_012655.2:g.17713C>T
  • NM_001163817.2:c.1084C>T
  • NM_001360.3:c.1084C>TMANE SELECT
  • NP_001157289.1:p.Arg362Cys
  • NP_001351.2:p.Arg362Cys
  • LRG_340t1:c.1084C>T
  • LRG_340:g.17713C>T
  • NC_000011.9:g.71146765G>A
  • NM_001360.2:c.1084C>T
Protein change:
R362C
Links:
dbSNP: rs371302153
NCBI 1000 Genomes Browser:
rs371302153
Molecular consequence:
  • NM_001163817.2:c.1084C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360.3:c.1084C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002103631Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Feb 22, 2022) 		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

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

Witsch-Baumgartner M, Fitzky BU, Ogorelkova M, Kraft HG, Moebius FF, Glossmann H, Seedorf U, Gillessen-Kaesbach G, Hoffmann GF, Clayton P, Kelley RI, Utermann G.

Am J Hum Genet. 2000 Feb;66(2):402-12.

PubMed [citation]
PMID:
10677299
PMCID:
PMC1288092

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002103631.1

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

Description

Variant summary: DHCR7 c.1084C>T (p.Arg362Cys) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 248946 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1084C>T has been reported in the literature in a study of individuals affected with Smith-Lemli-Opitz Syndrome (Witsch-Baumgartner_2000). This report does not provide unequivocal conclusions about association of the variant with Smith-Lemli-Opitz Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A ClinVar submitter (evaluation after 2014) cites the variant as likely pathogenic without providing evidence for independent evaluation. 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