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NM_174878.3(CLRN1):c.449T>C (p.Leu150Pro) AND Usher syndrome type 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2002
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000004646.4

Allele description [Variation Report for NM_174878.3(CLRN1):c.449T>C (p.Leu150Pro)]

NM_174878.3(CLRN1):c.449T>C (p.Leu150Pro)

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.449T>C (p.Leu150Pro)
HGVS:
  • NC_000003.12:g.150928186A>G
  • NG_009168.1:g.49814T>C
  • NM_001195794.1:c.488T>C
  • NM_001256819.2:c.*63T>C
  • NM_052995.2:c.221T>C
  • NM_174878.3:c.449T>CMANE SELECT
  • NP_001182723.1:p.Leu163Pro
  • NP_443721.1:p.Leu74Pro
  • NP_777367.1:p.Leu150Pro
  • LRG_700t1:c.488T>C
  • LRG_700t2:c.221T>C
  • LRG_700:g.49814T>C
  • LRG_700p1:p.Leu163Pro
  • LRG_700p2:p.Leu74Pro
  • NC_000003.11:g.150645973A>G
  • NR_046380.3:n.658T>C
Protein change:
L150P; LEU150PRO
Links:
OMIM: 606397.0005; dbSNP: rs121908142
NCBI 1000 Genomes Browser:
rs121908142
Molecular consequence:
  • NM_001256819.2:c.*63T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001195794.1:c.488T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_052995.2:c.221T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_174878.3:c.449T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046380.3:n.658T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Usher syndrome type 3
Synonyms:
Usher Syndrome, Type III
Identifiers:
MONDO: MONDO:0016485; MedGen: C1568248

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000024820OMIM
no assertion criteria provided
Pathogenic
(Sep 1, 2002) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.

Fields RR, Zhou G, Huang D, Davis JR, Möller C, Jacobson SG, Kimberling WJ, Sumegi J.

Am J Hum Genet. 2002 Sep;71(3):607-17. Epub 2002 Jul 16.

PubMed [citation]
PMID:
12145752
PMCID:
PMC449697

Details of each submission

From OMIM, SCV000024820.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In an Ashkenazi Jewish patient with type IIIA Usher syndrome (USH3A; 276902) who was living in the United States, Fields et al. (2002) found that the common Jewish mutation asn48 to lys (N48K; 606397.0004) in the CLRN1 gene was combined, in compound heterozygous state, with a 449T-C transition in exon 3, resulting in a leu150-to-pro (L150P) mutation.

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

Last Updated: Dec 30, 2023