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

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Nov 29, 2022
Review status:: criteria provided, conflicting classifications

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:: RCV000734205.13

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]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

BX745279 XGC-tadpole Xenopus tropicalis cDNA clone TTpA046c13 5', mRNA sequence
BX745279 XGC-tadpole Xenopus tropicalis cDNA clone TTpA046c13 5', mRNA sequence
gi|38418019|gnl|dbEST|20462413|emb| 279.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000862329	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Uncertain significance (Jul 6, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV003927437	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Nov 29, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000862329

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)

Uncertain significance
(Jul 6, 2018)

germline

clinical testing

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

Citation Link,

SCV003927437

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Nov 29, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical 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

Details of each submission

From Eurofins Ntd Llc (ga), SCV000862329.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		2	not provided	not provided	not provided

From GeneDx, SCV003927437.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 12270273)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 15, 2024

ClinVar

Relating variation to medicine