NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu) AND Usher syndrome type 1

Clinical significance:Uncertain significance (Last evaluated: Apr 17, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001275578.1

Allele description [Variation Report for NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu)]

NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu)

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.6654C>A (p.Asp2218Glu)
HGVS:
  • NC_000010.11:g.71793582C>A
  • NG_008835.1:g.401636C>A
  • NM_022124.6:c.6654C>AMANE SELECT
  • NP_071407.4:p.Asp2218Glu
  • NC_000010.10:g.73553339C>A
  • NM_022124.5:c.6654C>A
Protein change:
D2218E
Links:
dbSNP: rs537236734
NCBI 1000 Genomes Browser:
rs537236734
Molecular consequence:
  • NM_022124.6:c.6654C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Usher syndrome type 1 (USH1)
Synonyms:
Usher syndrome, type I, French variety; Retinitis pigmentosa and congenital deafness
Identifiers:
MONDO: MONDO:0010168; MedGen: C1568247; Orphanet: 231169; Orphanet: 886; OMIM: 276900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001460827Natera, Inc.no assertion criteria providedUncertain significance
(Apr 17, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001460827.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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