NM_153676.4(USH1C):c.1211-1140G>A AND Usher syndrome, type 1C

Clinical significance:Uncertain significance (Last evaluated: Apr 11, 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:
RCV001280393.1

Allele description [Variation Report for NM_153676.4(USH1C):c.1211-1140G>A]

NM_153676.4(USH1C):c.1211-1140G>A

Gene:
USH1C:USH1 protein network component harmonin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_153676.4(USH1C):c.1211-1140G>A
HGVS:
  • NC_000011.10:g.17517430C>T
  • NG_011883.1:g.31987G>A
  • NG_011883.2:g.31987G>A
  • NM_001297764.2:c.1198G>A
  • NM_005709.4:c.1255G>A
  • NM_153676.4:c.1211-1140G>AMANE SELECT
  • NP_001284693.1:p.Asp400Asn
  • NP_005700.2:p.Asp419Asn
  • NC_000011.9:g.17538977C>T
Protein change:
D400N
Molecular consequence:
  • NM_153676.4:c.1211-1140G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001297764.2:c.1198G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005709.4:c.1255G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Usher syndrome, type 1C (USH1C)
Synonyms:
USHER SYNDROME, TYPE I, ACADIAN VARIETY; Usher syndrome, Acadian variety
Identifiers:
MONDO: MONDO:0010171; MedGen: C1848604; Orphanet: 231169; Orphanet: 886; OMIM: 276904

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001467571Natera, Inc.no assertion criteria providedUncertain significance
(Apr 11, 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., SCV001467571.1

#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: Jun 14, 2021

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