NM_006005.3(WFS1):c.1832G>A (p.Arg611His) AND Wolfram syndrome 1

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: May 28, 2019
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:: RCV000987411.10

Allele description [Variation Report for NM_006005.3(WFS1):c.1832G>A (p.Arg611His)]

NM_006005.3(WFS1):c.1832G>A (p.Arg611His)

Gene:

WFS1:wolframin ER transmembrane glycoprotein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.1

Genomic location:

Preferred name:

NM_006005.3(WFS1):c.1832G>A (p.Arg611His)

HGVS:

NC_000004.12:g.6301627G>A
NG_011700.1:g.36778G>A
NM_001145853.1:c.1832G>A
NM_006005.3:c.1832G>AMANE SELECT
NP_001139325.1:p.Arg611His
NP_005996.2:p.Arg611His
NP_005996.2:p.Arg611His
LRG_1417t1:c.1832G>A
LRG_1417:g.36778G>A
LRG_1417p1:p.Arg611His
NC_000004.11:g.6303354G>A
O76024:p.Arg611His
c.1832G>A

Protein change:

R611H

Links:

UniProtKB: O76024#VAR_005843; dbSNP: rs734312

NCBI 1000 Genomes Browser:

rs734312

Molecular consequence:

NM_001145853.1:c.1832G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006005.3:c.1832G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Wolfram syndrome 1 (WFS1)
Identifiers:: MONDO: MONDO:0009101; MedGen: C4551693; Orphanet: 3463; OMIM: 222300

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001136700	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Benign (May 28, 2019)	unknown	clinical testing	Citation Link,
SCV002605558	Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	criteria provided, single submitter (K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)	Likely benign	unknown	research	PubMed (4) [See all records that cite these PMIDs] 34803393, 23257691, 28870582, 18040659 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001136700

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Benign
(May 28, 2019)

unknown

clinical testing

Citation Link,

SCV002605558

Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

criteria provided, single submitter

(K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)

Likely benign

unknown

research

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing, research

Citations

PubMed

Pharmacogenomics and Personalized Medicine in Type 2 Diabetes Mellitus: Potential Implications for Clinical Practice.

Venkatachalapathy P, Padhilahouse S, Sellappan M, Subramanian T, Kurian SJ, Miraj SS, Rao M, Raut AA, Kanwar RK, Singh J, Khadanga S, Mondithoka S, Munisamy M.

Pharmgenomics Pers Med. 2021;14:1441-1455. doi: 10.2147/PGPM.S329787. Review.

PubMed [citation]

PMID:: 34803393
PMCID:: PMC8598203

Association of rs734312 and rs10010131 polymorphisms in WFS1 gene with type 2 diabetes mellitus: a meta-analysis.

Cheng S, Wu Y, Wu W, Zhang D.

Endocr J. 2013;60(4):441-7. Epub 2012 Dec 15.

PubMed [citation]

PMID:: 23257691

See all PubMed Citations (4)

Details of each submission

From Mendelics, SCV001136700.1

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

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

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002605558.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	research	PubMed (4)

Description

Mutations in WFS1 gene are associated with Wolfram's syndrome, an autosomal recessive condition, which cause diabetes mellitus, diabetes insipidus, deafness and optic atrophy. rs734312 variant is also seen in patients with Diabetes Mellitus. However, the role of this particular variant is yet to be ascertained.

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

Last Updated: Oct 26, 2024

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