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NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Nov 30, 2020)
Last evaluated:
Oct 8, 2018
Accession:
VCV000181127.5
Variation ID:
181127
Description:
single nucleotide variant
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NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu)

Allele ID
179256
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p11.2
Genomic location
11: 47337564 (GRCh38) GRCh38 UCSC
11: 47359115 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_386:g.20139G>T
LRG_386t1:c.2429G>T LRG_386p1:p.Arg810Leu
NC_000011.10:g.47337564C>A
... more HGVS
Protein change
R810L
Other names
p.R810L:CGC>CTC
Canonical SPDI
NC_000011.10:47337563:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA012244
dbSNP: rs375675796
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jan 26, 2017 RCV000158444.3
Uncertain significance 1 criteria provided, single submitter Oct 8, 2018 RCV000458102.3
Likely pathogenic 1 criteria provided, single submitter Feb 13, 2018 RCV000617694.1
Likely pathogenic 1 criteria provided, single submitter Jun 16, 2017 RCV000627129.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MYBPC3 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
2403 2418

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 26, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000208379.12
Submitted: (Nov 28, 2017)
Evidence details
Comment:
The R810L likely pathogenic variant in the MYBPC3 gene has been previously published in association with HCM (Millat et al., 2010; Olivotto et al., 2011). … (more)
Likely pathogenic
(Jun 16, 2017)
criteria provided, single submitter
Method: clinical testing
None
Allele origin: germline
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute
Accession: SCV000747941.1
Submitted: (Aug 02, 2017)
Evidence details
Uncertain significance
(Oct 08, 2018)
criteria provided, single submitter
Method: clinical testing
Hypertrophic cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV000546461.4
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces arginine with leucine at codon 810 of the MYBPC3 protein (p.Arg810Leu). The arginine residue is highly conserved and there is a … (more)
Likely pathogenic
(Feb 13, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000739949.3
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (2)
Comment:
The p.R810L variant (also known as c.2429G>T), located in coding exon 25 of the MYBPC3 gene, results from a G to T substitution at nucleotide … (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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations. Olivotto I Journal of the American College of Cardiology 2011 PMID: 21835320
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. Millat G European journal of medical genetics 2010 PMID: 20624503

Text-mined citations for rs375675796...

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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 08, 2021