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NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 22, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002408444.5

Allele description [Variation Report for NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)]

NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)

Gene:
RBM20:RNA binding motif protein 20 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q25.2
Genomic location:
Preferred name:
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)
Other names:
p.R636H:CGT>CAT
HGVS:
  • NC_000010.11:g.110812304G>A
  • NG_021177.1:g.172908G>A
  • NM_001134363.3:c.1907G>AMANE SELECT
  • NP_001127835.2:p.Arg636His
  • LRG_382t1:c.1907G>A
  • LRG_382:g.172908G>A
  • NC_000010.10:g.112572062G>A
  • NM_001134363.1:c.1907G>A
  • NM_001134363.2:c.1907G>A
  • c.1907G>A
Protein change:
R636H; ARG636HIS
Links:
OMIM: 613171.0004; dbSNP: rs267607004
NCBI 1000 Genomes Browser:
rs267607004
Molecular consequence:
  • NM_001134363.3:c.1907G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002720511Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Mar 22, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy.

Brauch KM, Karst ML, Herron KJ, de Andrade M, Pellikka PA, Rodeheffer RJ, Michels VV, Olson TM.

J Am Coll Cardiol. 2009 Sep 1;54(10):930-41. doi: 10.1016/j.jacc.2009.05.038.

PubMed [citation]
PMID:
19712804
PMCID:
PMC2782634

Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy.

Li D, Morales A, Gonzalez-Quintana J, Norton N, Siegfried JD, Hofmeyer M, Hershberger RE.

Clin Transl Sci. 2010 Jun;3(3):90-7. doi: 10.1111/j.1752-8062.2010.00198.x.

PubMed [citation]
PMID:
20590677
PMCID:
PMC2898174
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV002720511.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

The p.R636H pathogenic mutation (also known as c.1907G>A), located in coding exon 9 of the RBM20 gene, results from a G to A substitution at nucleotide position 1907. The arginine at codon 636 is replaced by histidine, an amino acid with highly similar properties. This mutation has been reported in several individuals with dilated cardiomyopathy (DCM), and has been shown to segregate with disease in multi-generational families with DCM (Brauch KM et al. J Am Coll Cardiol. 2009;54:930-41; Li D et al. Clin Transl Sci. 2010;3:90-7; Wells QS et al. Circ Cardiovasc Genet. 2013;6:317-26). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition, other alterations at this codon (p.R636S and p.R636C) have also been reported in association with DCM (Brauch KM et al. J Am Coll Cardiol. 2009;54:930-41;Li D et al. Clin Transl Sci. 2010;3:90-7). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024