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NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp) AND Rare genetic deafness

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 17, 2011
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:
RCV000844624.4

Allele description [Variation Report for NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)]

NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)

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.368C>A (p.Ala123Asp)
HGVS:
  • NC_000003.12:g.150941647G>T
  • NG_009168.1:g.36353C>A
  • NM_001195794.1:c.368C>A
  • NM_001256819.2:c.540C>A
  • NM_052995.2:c.140C>A
  • NM_174878.3:c.368C>AMANE SELECT
  • NP_001182723.1:p.Ala123Asp
  • NP_001243748.1:p.Cys180Ter
  • NP_443721.1:p.Ala47Asp
  • NP_777367.1:p.Ala123Asp
  • LRG_700t1:c.368C>A
  • LRG_700t2:c.140C>A
  • LRG_700:g.36353C>A
  • LRG_700p1:p.Ala123Asp
  • LRG_700p2:p.Ala47Asp
  • NC_000003.11:g.150659434G>T
  • NM_174878.2:c.368C>A
  • NR_046380.3:n.538C>A
  • c.368C>A
Protein change:
A123D
Links:
dbSNP: rs374963432
NCBI 1000 Genomes Browser:
rs374963432
Molecular consequence:
  • NM_001195794.1:c.368C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_052995.2:c.140C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_174878.3:c.368C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046380.3:n.538C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001256819.2:c.540C>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Rare genetic deafness
Identifiers:
MedGen: C5680250; Orphanet: 96210

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000065131Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Pathogenic
(May 17, 2011) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.

Ebermann I, Lopez I, Bitner-Glindzicz M, Brown C, Koenekoop RK, Bolz HJ.

Genome Biol. 2007;8(4):R47.

PubMed [citation]
PMID:
17407589
PMCID:
PMC1895989

Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.

Isosomppi J, Västinsalo H, Geller SF, Heon E, Flannery JG, Sankila EM.

Mol Vis. 2009 Sep 8;15:1806-18.

PubMed [citation]
PMID:
19753315
PMCID:
PMC2742642
See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000065131.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)

Description

The Ala123Asp variant has been reported in two individuals with Usher syndrome a nd was absent from 566 control chromosomes (Ebermann 2007, Isosomppi 2009). In a ddition, functional studies showed that the variant protein is not correctly loc alized in the cell and is rapidly degraded (Isosomppi 2009). In summary, this da ta meets our criteria to classify this variant as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Sep 29, 2024