NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 2, 2016
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:: RCV000614663.4

Allele description [Variation Report for NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg)]

NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg)

Gene:

CLRN1:clarin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q25.1

Genomic location:

Preferred name:

NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg)

HGVS:

NC_000003.12:g.150972491T>C
NG_009168.1:g.5509A>G
NM_001195794.1:c.218A>G
NM_001256819.2:c.218A>G
NM_174878.3:c.218A>GMANE SELECT
NP_001182723.1:p.Gln73Arg
NP_001243748.1:p.Gln73Arg
NP_777367.1:p.Gln73Arg
LRG_700t1:c.218A>G
LRG_700:g.5509A>G
LRG_700p1:p.Gln73Arg
NC_000003.11:g.150690278T>C
NM_174878.2:c.218A>G
NR_046380.3:n.237A>G

Protein change:

Q73R

Links:

dbSNP: rs201008540

NCBI 1000 Genomes Browser:

rs201008540

Molecular consequence:

NM_001195794.1:c.218A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001256819.2:c.218A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_174878.3:c.218A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_046380.3:n.237A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

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

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000710995	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Jun 2, 2016)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 22952768, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000710995

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Jun 2, 2016)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.

Licastro D, Mutarelli M, Peluso I, Neveling K, Wieskamp N, Rispoli R, Vozzi D, Athanasakis E, D'Eustacchio A, Pizzo M, D'Amico F, Ziviello C, Simonelli F, Fabretto A, Scheffer H, Gasparini P, Banfi S, Nigro V.

PLoS One. 2012;7(8):e43799. doi: 10.1371/journal.pone.0043799. Epub 2012 Aug 29.

PubMed [citation]

PMID:: 22952768
PMCID:: PMC3430670

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000710995.1

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

Description

The p.Gln73Arg variant in CLRN1 has been previously reported in 1 individual wit h Usher syndrome (Licastro 2012); however, a variant affecting the remaining cop y of CLRN1 was not identified, and that individual was heterozygous for a pathog enic variant in another gene. This variant has been identified in 22/66714 of Eu ropean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs201008540); however, its frequency is not high enough to r ule out a pathogenic role. Computational prediction tools and conservation analy ses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical sign ificance of the p.Gln73Arg variant is uncertain.

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

Last Updated: Dec 24, 2023

ClinVar

Relating variation to medicine