Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_153676.4(USH1C):c.1703C>T (p.Pro568Leu)

Help
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 20, 2018
Accession:
VCV000667352.2
Variation ID:
667352
Description:
single nucleotide variant
Help

NM_153676.4(USH1C):c.1703C>T (p.Pro568Leu)

Allele ID
654657
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17509666 (GRCh38) GRCh38 UCSC
11: 17531213 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.17509666G>A
NC_000011.9:g.17531213G>A
NM_153676.4:c.1703C>T MANE Select NP_710142.1:p.Pro568Leu missense
... more HGVS
Protein change
P568L
Other names
-
Canonical SPDI
NC_000011.10:17509665:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Links
dbSNP: rs747675437
Varsome
Help

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 20, 2018 RCV000826071.1
Likely benign 1 criteria provided, single submitter Jun 18, 2018 RCV000929671.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 20, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000967565.1
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The p.Pro568Leu variant in USH1C has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in 0.004% (1/22996 … (more)
Likely benign
(Jun 18, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001075306.1
Submitted: (Mar 14, 2019)
Evidence details

Functional evidence

Help
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

Help
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 rs747675437...

Help
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