U.S. flag

An official website of the United States government

NM_001360.3(DHCR7):c.1099C>T (p.Arg367Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 16, 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:
RCV003155146.8

Allele description [Variation Report for NM_001360.3(DHCR7):c.1099C>T (p.Arg367Cys)]

NM_001360.3(DHCR7):c.1099C>T (p.Arg367Cys)

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.1099C>T (p.Arg367Cys)
HGVS:
  • NC_000011.10:g.71435704G>A
  • NG_012655.2:g.17728C>T
  • NM_001163817.2:c.1099C>T
  • NM_001360.3:c.1099C>TMANE SELECT
  • NP_001157289.1:p.Arg367Cys
  • NP_001351.2:p.Arg367Cys
  • NP_001351.2:p.Arg367Cys
  • LRG_340t1:c.1099C>T
  • LRG_340:g.17728C>T
  • LRG_340p1:p.Arg367Cys
  • NC_000011.9:g.71146750G>A
  • NM_001360.2:c.1099C>T
Protein change:
R367C
Links:
dbSNP: rs531038145
NCBI 1000 Genomes Browser:
rs531038145
Molecular consequence:
  • NM_001163817.2:c.1099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360.3:c.1099C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003844870Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Feb 16, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

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, SCV003844870.1

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

Description

Variant summary: DHCR7 c.1099C>T (p.Arg367Cys) 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 0.00019 in 248618 control chromosomes, predominantly at a frequency of 0.0019 within the East Asian subpopulation in the gnomAD database. This frequency is not significantly higher than estimated for a pathogenic variant in DHCR7 causing Smith-Lemli-Opitz Syndrome (0.00019 vs 0.0043), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1099C>T in individuals affected with Smith-Lemli-Opitz Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Five submitters have provided clinical-significance assessments for this variant to ClinVar after 2014 and all 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