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

Clinical significance:Likely pathogenic (Last evaluated: Feb 13, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000617694.1

Allele description [Variation Report for NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu)]

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

Gene:
MYBPC3:myosin binding protein C3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu)
Other names:
p.R810L:CGC>CTC
HGVS:
  • NC_000011.10:g.47337564C>A
  • NG_007667.1:g.20139G>T
  • NM_000256.3:c.2429G>TMANE SELECT
  • NP_000247.2:p.Arg810Leu
  • LRG_386t1:c.2429G>T
  • LRG_386:g.20139G>T
  • LRG_386p1:p.Arg810Leu
  • NC_000011.9:g.47359115C>A
Protein change:
R810L
Links:
dbSNP: rs375675796
NCBI 1000 Genomes Browser:
rs375675796
Molecular consequence:
  • NM_000256.3:c.2429G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000739949Ambry Geneticscriteria provided, single submitter
Likely pathogenic
(Feb 13, 2018)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

Millat G, Bouvagnet P, Chevalier P, Dauphin C, Jouk PS, Da Costa A, Prieur F, Bresson JL, Faivre L, Eicher JC, Chassaing N, Crehalet H, Porcher R, Rodriguez-Lafrasse C, Rousson R.

Eur J Med Genet. 2010 Sep-Oct;53(5):261-7. doi: 10.1016/j.ejmg.2010.07.007. Epub 2010 Jul 30.

PubMed [citation]
PMID:
20624503

Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations.

Olivotto I, Girolami F, Sciagrà R, Ackerman MJ, Sotgia B, Bos JM, Nistri S, Sgalambro A, Grifoni C, Torricelli F, Camici PG, Cecchi F.

J Am Coll Cardiol. 2011 Aug 16;58(8):839-48. doi: 10.1016/j.jacc.2011.05.018.

PubMed [citation]
PMID:
21835320

Details of each submission

From Ambry Genetics, SCV000739949.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

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 position 2429. The arginine at codon 810 is replaced by leucine, an amino acid with dissimilar properties. This variant has been reported in several unrelated individuals with hypertrophic cardiomyopathy (HCM), although in one case other alterations were also detected (Millat G et al. Eur J Med Genet 2010 Jul; 53(5):261-7; Olivotto I et al. J. Am. Coll. Cardiol. 2011 Aug; 58(8):839-48). Additionally, another variant affecting the same amino acid, p.R810H (c.2429G>A), has also been identified in multiple HCM cases, though some individuals were positive for other cardiac variants as well (Nanni et al. Biochem Biophys Res Commun. 2003;309(2):391-8; Maron et al. Am J Cardiol. 2011;107(4):604-8; Roncarati et al. Cell Physiol. 2011;226(11):2894-900). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 7, 2021

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