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NM_153676.4(USH1C):c.1597G>A (p.Ala533Thr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Mar 21, 2019)
Last evaluated:
Nov 19, 2018
Accession:
VCV000166382.3
Variation ID:
166382
Description:
single nucleotide variant
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NM_153676.4(USH1C):c.1597G>A (p.Ala533Thr)

Allele ID
175681
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17509772 (GRCh38) GRCh38 UCSC
11: 17531319 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.17509772C>T
NC_000011.9:g.17531319C>T
NM_153676.4:c.1597G>A MANE Select NP_710142.1:p.Ala533Thr missense
... more HGVS
Protein change
A533T
Other names
-
Canonical SPDI
NC_000011.10:17509771:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00005
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00010
The Genome Aggregation Database (gnomAD), exomes 0.00007
Links
ClinGen: CA179478
dbSNP: rs201104489
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Nov 7, 2014 RCV000152549.1
Likely benign 1 criteria provided, single submitter Nov 19, 2018 RCV000939264.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
USH1C - - GRCh38
GRCh37
702 725

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 07, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000201760.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Variant classified as Uncertain Significance - Favor Benign. The p.Ala533Thr var iant in USH1C has not been previously reported in individuals with hearing loss, but … (more)
Likely benign
(Nov 19, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001085104.1
Submitted: (Mar 14, 2019)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs201104489...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jul 07, 2021