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NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg) AND Usher syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 24, 2023
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:
RCV003226842.1

Allele description [Variation Report for NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)]

NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)

Gene:
CDH23:cadherin related 23 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)
Other names:
p.Ser384Arg
HGVS:
  • NC_000010.11:g.71645842C>A
  • NG_008835.1:g.253896C>A
  • NM_001171930.2:c.1152C>A
  • NM_001171931.2:c.1152C>A
  • NM_022124.6:c.1152C>AMANE SELECT
  • NM_052836.4:c.1152C>A
  • NP_001165401.1:p.Ser384Arg
  • NP_001165402.1:p.Ser384Arg
  • NP_071407.4:p.Ser384Arg
  • NP_443068.1:p.Ser384Arg
  • NC_000010.10:g.73405599C>A
  • NM_022124.5:c.1152C>A
Protein change:
S384R
Molecular consequence:
  • NM_001171930.2:c.1152C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171931.2:c.1152C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022124.6:c.1152C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_052836.4:c.1152C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Usher syndrome
Synonyms:
Usher Syndromes; Usher's syndrome
Identifiers:
MONDO: MONDO:0019501; MeSH: D052245; MedGen: C0271097; Orphanet: 886; OMIM: PS276900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003923167Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(Mar 24, 2023) 		germlineclinical testing

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

Citation Link

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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

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.

Agolini E, Dentici ML, Bellacchio E, Alesi V, Radio FC, Torella A, Musacchia F, Tartaglia M, Dallapiccola B, Nigro V, Digilio MC, Novelli A.

Clin Genet. 2018 Mar;93(3):675-681. doi: 10.1111/cge.13137. Epub 2018 Feb 5. Review.

PubMed [citation]
PMID:
28902392
See all PubMed Citations (4)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003923167.1

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

Description

Variant summary: CDH23 c.1152C>A (p.Ser384Arg) results in a non-conservative amino acid change in the encoded protein sequence, altering a highly conserved residue (HGMD). Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 248678 control chromosomes. c.1152C>A has been reported in the literature in multiple homozygous individuals affected with Usher Syndrome or related conditions, with evidence of cosegregation with disease within families (Agolini_2018, Bonnet_2016, Budde_2020, Said_2022). These data indicate that the variant is very likely to be associated with disease. No submitters have provided clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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

Last Updated: Jun 17, 2024