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NM_001036.6(RYR3):c.4307A>C (p.Gln1436Pro)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Nov 1, 2017
Accession:
VCV000453047.2
Variation ID:
453047
Description:
single nucleotide variant
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NM_001036.6(RYR3):c.4307A>C (p.Gln1436Pro)

Allele ID
445301
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q14
Genomic location
15: 33652882 (GRCh38) GRCh38 UCSC
15: 33945083 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.33652882A>C
NC_000015.9:g.33945083A>C
NG_047076.1:g.347100A>C
... more HGVS
Protein change
Q1436P
Other names
-
Canonical SPDI
NC_000015.10:33652881:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA7458953
dbSNP: rs765877934
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 1, 2017 RCV000519323.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RYR3 - - GRCh38
GRCh37
1224 1362

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 01, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000621901.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The Q1436P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Q1436P … (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 rs765877934...

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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 Oct 24, 2021