NM_022124.6(CDH23):c.10027G>A (p.Val3343Met) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Jul 5, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000610868.1

Allele description [Variation Report for NM_022124.6(CDH23):c.10027G>A (p.Val3343Met)]

NM_022124.6(CDH23):c.10027G>A (p.Val3343Met)

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.10027G>A (p.Val3343Met)
HGVS:
  • NC_000010.11:g.71815240G>A
  • NG_008835.1:g.423294G>A
  • NG_009301.1:g.41086C>T
  • NM_001171933.1:c.3307G>A
  • NM_001171934.1:c.3202G>A
  • NM_001171935.1:c.718G>A
  • NM_001171936.1:c.613G>A
  • NM_022124.6:c.10027G>AMANE SELECT
  • NP_001165404.1:p.Val1103Met
  • NP_001165405.1:p.Val1068Met
  • NP_001165406.1:p.Val240Met
  • NP_001165407.1:p.Val205Met
  • NP_071407.4:p.Val3343Met
  • NC_000010.10:g.73574997G>A
  • NM_022124.5:c.10027G>A
Protein change:
V1068M
Links:
dbSNP: rs756425157
NCBI 1000 Genomes Browser:
rs756425157
Molecular consequence:
  • NM_001171933.1:c.3307G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171934.1:c.3202G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171935.1:c.718G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171936.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022124.6:c.10027G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000713323Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Jul 5, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss.

Mizutari K, Mutai H, Namba K, Miyanaga Y, Nakano A, Arimoto Y, Masuda S, Morimoto N, Sakamoto H, Kaga K, Matsunaga T.

Orphanet J Rare Dis. 2015 May 13;10:60. doi: 10.1186/s13023-015-0276-z.

PubMed [citation]
PMID:
25963016
PMCID:
PMC4451718

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, Partners HealthCare Personalized Medicine, SCV000713323.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The p.Val3343Met variant in CDH23 has been reported in 1 Japanese individual wit h hearing loss who did not carry a second variant in the CDH23 gene (Mizutari 20 15). It has also been identified in 5/18656 East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs7564251 57). Although this variant has been seen in the general population, its frequenc y is not high enough to rule out a pathogenic role. Computational prediction too ls and conservation analysis do not provide strong support for or against an imp act to the protein. In summary, the clinical significance of the p.Val3343Met va riant is uncertain.

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

Last Updated: Jul 7, 2021

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