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NM_153676.4(USH1C):c.2047C>T (p.Pro683Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 21, 2019)
Last evaluated:
Mar 8, 2011
Accession:
VCV000047988.2
Variation ID:
47988
Description:
single nucleotide variant
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NM_153676.4(USH1C):c.2047C>T (p.Pro683Ser)

Allele ID
57152
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17505916 (GRCh38) GRCh38 UCSC
11: 17527463 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.17505916G>A
NC_000011.9:g.17527463G>A
NM_153676.4:c.2047C>T MANE Select NP_710142.1:p.Pro683Ser missense
... more HGVS
Protein change
P683S
Other names
-
Canonical SPDI
NC_000011.10:17505915:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA142318
dbSNP: rs397517873
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 Mar 8, 2011 RCV000041264.2
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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
(Mar 08, 2011)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000064955.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The Pro683Ser variant in USH1C has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino ac id … (more)

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 rs397517873...

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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