U.S. flag

An official website of the United States government

NM_174878.3(CLRN1):c.176del (p.Gly59fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 10, 2022
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:
RCV002651755.2

Allele description [Variation Report for NM_174878.3(CLRN1):c.176del (p.Gly59fs)]

NM_174878.3(CLRN1):c.176del (p.Gly59fs)

Gene:
CLRN1:clarin 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3q25.1
Genomic location:
Preferred name:
NM_174878.3(CLRN1):c.176del (p.Gly59fs)
HGVS:
  • NC_000003.12:g.150972535del
  • NG_009168.1:g.5467del
  • NM_001195794.1:c.176del
  • NM_001256819.2:c.176del
  • NM_174878.3:c.176delMANE SELECT
  • NM_174879.1:c.174delG
  • NP_001182723.1:p.Gly59fs
  • NP_001243748.1:p.Gly59fs
  • NP_777367.1:p.Gly59fs
  • NP_777368.1:p.Gly59Valfs
  • LRG_700t1:c.176del
  • LRG_700:g.5467del
  • LRG_700p1:p.Gly59fs
  • NC_000003.11:g.150690320del
  • NC_000003.11:g.150690322del
  • NR_046380.3:n.195del
Protein change:
G59fs
Molecular consequence:
  • NM_001195794.1:c.176del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001256819.2:c.176del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_174878.3:c.176del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_174879.1:c.174delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_046380.3:n.195del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV003525674Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 10, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, et al.

Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27.

PubMed [citation]
PMID:
27460420
PMCID:
PMC5117943

Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

Joensuu T, Hämäläinen R, Yuan B, Johnson C, Tegelberg S, Gasparini P, Zelante L, Pirvola U, Pakarinen L, Lehesjoki AE, de la Chapelle A, Sankila EM.

Am J Hum Genet. 2001 Oct;69(4):673-84. Epub 2001 Aug 27. Erratum in: Am J Hum Genet 2001 Nov;69(5):1160.

PubMed [citation]
PMID:
11524702
PMCID:
PMC1226054
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV003525674.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 27460420). This variant is present in population databases (rs773036590, gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly59Valfs*13) in the CLRN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CLRN1 are known to be pathogenic (PMID: 11524702, 24498627).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 14, 2024