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NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) AND RBM20-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 17, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004751187.1

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:
RBM20-related disorder
Synonyms:
RBM20-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005360340PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Jul 17, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005360340.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The RBM20 c.1907G>A variant is predicted to result in the amino acid substitution p.Arg636His. This variant has been reported to be causative for dilated cardiomyopathy and found to segregate in multiple families (Brauch et al. 2009. PubMed ID: 19712804; Li et al. 2010. PubMed ID: 20590677; Table S1, Gigli et al. 2019. PubMed ID: 31514951). Functional studies showed that this variant results in aberrant subcellular localization (rat ortholog p.Arg639His in Figure 8, Zhang et al. 2023. PubMed ID: 37219949). This variant has not been reported in a large population database, indicating this variant is rare. Different nucleotide substitutions affecting the same amino acid (p.Arg636Ser, p.Arg636Cys, p.Arg636Leu) have been reported in individuals with dilated cardiomyopathy (Human Gene Mutation Database). Taken together, the c.1907G>A (p.Arg636His) variant is interpreted as pathogenic.

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

Last Updated: Oct 13, 2024