NM_022124.6(CDH23):c.4040C>T (p.Thr1347Met) AND Usher syndrome type 1

Clinical significance:Uncertain significance (Last evaluated: Jan 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:
RCV001273540.1

Allele description [Variation Report for NM_022124.6(CDH23):c.4040C>T (p.Thr1347Met)]

NM_022124.6(CDH23):c.4040C>T (p.Thr1347Met)

Genes:
CDH23:cadherin related 23 [Gene - OMIM - HGNC]
C10orf105:chromosome 10 open reading frame 105 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_022124.6(CDH23):c.4040C>T (p.Thr1347Met)
HGVS:
  • NC_000010.11:g.71732311C>T
  • NG_008835.1:g.340365C>T
  • NM_001168390.2:c.-6+5417G>A
  • NM_001171930.2:c.4040C>T
  • NM_022124.6:c.4040C>TMANE SELECT
  • NP_001165401.1:p.Thr1347Met
  • NP_071407.4:p.Thr1347Met
  • NC_000010.10:g.73492068C>T
  • NM_022124.5:c.4040C>T
Protein change:
T1347M
Molecular consequence:
  • NM_001168390.2:c.-6+5417G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001171930.2:c.4040C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022124.6:c.4040C>T - 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
SCV001456677Natera, Inc.no assertion criteria providedUncertain significance
(Jan 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., SCV001456677.1

#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: Oct 7, 2021

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