NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 7, 2023
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:
RCV003155295.8

Allele description [Variation Report for NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys)]

NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys)

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.1087C>T (p.Arg363Cys)
HGVS:
  • NC_000011.10:g.71435716G>A
  • NG_012655.2:g.17716C>T
  • NM_001163817.2:c.1087C>T
  • NM_001360.3:c.1087C>TMANE SELECT
  • NP_001157289.1:p.Arg363Cys
  • NP_001351.2:p.Arg363Cys
  • NP_001351.2:p.Arg363Cys
  • LRG_340t1:c.1087C>T
  • LRG_340:g.17716C>T
  • LRG_340p1:p.Arg363Cys
  • NC_000011.9:g.71146762G>A
  • NM_001360.2:c.1087C>T
Protein change:
R363C
Links:
dbSNP: rs547012639
NCBI 1000 Genomes Browser:
rs547012639
Molecular consequence:
  • NM_001163817.2:c.1087C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360.3:c.1087C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003844421Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Feb 7, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome.

Patrono C, Dionisi-Vici C, Giannotti A, Bembi B, Digilio MC, Rizzo C, Purificato C, Martini C, Pierini R, Santorelli FM.

Mol Cell Probes. 2002 Aug;16(4):315-8.

PubMed [citation]
PMID:
12270273

Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome.

Peng Y, Myers R, Zhang W, Alexov E.

Int J Mol Sci. 2018 Jan 4;19(1). doi:pii: E141. 10.3390/ijms19010141.

PubMed [citation]
PMID:
29300326
PMCID:
PMC5796090

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003844421.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: DHCR7 c.1087C>T (p.Arg363Cys) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 5.6e-05 in 248840 control chromosomes (gnomAD). This frequency is not significantly higher than expected for a pathogenic variant in DHCR7 causing Smith-Lemli-Opitz Syndrome (5.6e-05 vs 0.0043), allowing no conclusion about variant significance. c.1087C>T has been reported in the literature in at least one compound heterozygous individual affected with Smith-Lemli-Opitz Syndrome; the individual displayed a moderate phenotype and elevated 7DHC levels (Patrono_2002). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four ClinVar submitters (evaluation after 2014) have cited the variant, and all laboratories classified the variant as uncertain significance. 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: Oct 26, 2024