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NM_004519.4(KCNQ3):c.1783T>C (p.Ser595Pro)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Mar 1, 2017
Accession:
VCV000424010.2
Variation ID:
424010
Description:
single nucleotide variant
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NM_004519.4(KCNQ3):c.1783T>C (p.Ser595Pro)

Allele ID
407311
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q24.22
Genomic location
8: 132134306 (GRCh38) GRCh38 UCSC
8: 133146553 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.133146553A>G
NC_000008.11:g.132134306A>G
NM_001204824.1:c.1423T>C NP_001191753.1:p.Ser475Pro missense
... more HGVS
Protein change
S595P
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16618599
dbSNP: rs1064796743
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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 1, 2017 RCV000478698.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KCNQ3 - - GRCh38
GRCh37
487 538

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 01, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000573782.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The S595P variant in the KCNQ3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The ... (more)

Citations for this variant

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

Record last updated Oct 27, 2019