NM_001360.3(DHCR7):c.1349_1350delinsTG (p.Arg450Leu) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Nov 1, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001560504.9

Allele description [Variation Report for NM_001360.3(DHCR7):c.1349_1350delinsTG (p.Arg450Leu)]

NM_001360.3(DHCR7):c.1349_1350delinsTG (p.Arg450Leu)

Gene:

DHCR7:7-dehydrocholesterol reductase [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

11q13.4

Genomic location:

Preferred name:

NM_001360.3(DHCR7):c.1349_1350delinsTG (p.Arg450Leu)

HGVS:

NC_000011.10:g.71435453_71435454delinsCA
NG_012655.2:g.17978_17979delinsTG
NM_001163817.2:c.1349_1350delinsTG
NM_001360.3:c.1349_1350delinsTGMANE SELECT
NP_001157289.1:p.Arg450Leu
NP_001351.2:p.Arg450Leu
NP_001351.2:p.Arg450Leu
LRG_340t1:c.1349_1350delinsTG
LRG_340:g.17978_17979delinsTG
LRG_340p1:p.Arg450Leu
NC_000011.9:g.71146499_71146500delinsCA
NM_001360.2:c.1349_1350delGCinsTG
NM_001360.2:c.1349_1350delinsTG

Protein change:

R450L

Links:

dbSNP: rs1591107040

NCBI 1000 Genomes Browser:

rs1591107040

Molecular consequence:

NM_001163817.2:c.1349_1350delinsTG - missense variant - [Sequence Ontology: SO:0001583]
NM_001360.3:c.1349_1350delinsTG - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001782932	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Oct 9, 2020)	germline	clinical testing	Citation Link,
SCV004010100	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Nov 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001782932

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Oct 9, 2020)

germline

clinical testing

Citation Link,

SCV004010100

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Nov 1, 2023)

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	yes	4	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001782932.1

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

Description

Has not been previously published as pathogenic or benign to our knowledge; However, a different variant (c.1349G>T) resulting in the same missense alteration (p.R450L) have been reported in association with Smith-Lemli-Optiz syndrome (Witsch-Baumgartner et al., 2000; Correra-Cerro et al., 2005); Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports a deleterious effect on protein structure/function; Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 10677299, 16181459, 15805162, 10405455)

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV004010100.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	not provided

Description

DHCR7: PS1, PM2, PM3, PP4, PS3:Supporting

#	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		4	not provided	not provided	not provided

Last Updated: May 1, 2024

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