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NM_022124.6(CDH23):c.4538T>C (p.Leu1513Pro) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 25, 2020
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:
RCV001761458.2

Allele description [Variation Report for NM_022124.6(CDH23):c.4538T>C (p.Leu1513Pro)]

NM_022124.6(CDH23):c.4538T>C (p.Leu1513Pro)

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.4538T>C (p.Leu1513Pro)
HGVS:
  • NC_000010.11:g.71740871T>C
  • NG_008835.1:g.348925T>C
  • NM_022124.6:c.4538T>CMANE SELECT
  • NP_071407.4:p.Leu1513Pro
  • NC_000010.10:g.73500628T>C
  • NM_022124.5:c.4538T>C
Protein change:
L1513P
Links:
dbSNP: rs1236813363
NCBI 1000 Genomes Browser:
rs1236813363
Molecular consequence:
  • NM_022124.6:c.4538T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002000880GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Nov 25, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV002000880.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Dec 24, 2023