NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) AND Cardiovascular phenotype

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 20, 2019
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:: RCV000244434.1

Allele description

NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu)

Gene:

TPM1:tropomyosin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.2

Genomic location:

Preferred name:

NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu)

Other names:

p.R21L:CGA>CTA

HGVS:

NC_000015.10:g.63042891G>T
NG_007557.1:g.5253G>T
NM_000366.6:c.62G>T
NM_001018004.2:c.62G>T
NM_001018005.2:c.62G>TMANE SELECT
NM_001018006.2:c.62G>T
NM_001018007.2:c.62G>T
NM_001018020.2:c.62G>T
NM_001301244.2:c.62G>T
NM_001365776.1:c.62G>T
NM_001365777.1:c.62G>T
NM_001365778.1:c.62G>T
NM_001365779.1:c.62G>T
NP_000357.3:p.Arg21Leu
NP_001018004.1:p.Arg21Leu
NP_001018005.1:p.Arg21Leu
NP_001018006.1:p.Arg21Leu
NP_001018007.1:p.Arg21Leu
NP_001018020.1:p.Arg21Leu
NP_001288173.1:p.Arg21Leu
NP_001352705.1:p.Arg21Leu
NP_001352706.1:p.Arg21Leu
NP_001352707.1:p.Arg21Leu
NP_001352708.1:p.Arg21Leu
LRG_387t1:c.62G>T
LRG_387:g.5253G>T
LRG_387p1:p.Arg21Leu
NC_000015.9:g.63335090G>T
NM_000366.5:c.62G>T
NM_001018005.1:c.62G>T
NM_001018008.1:c.-5685G>T

Protein change:

R21L

Links:

dbSNP: rs730881151

NCBI 1000 Genomes Browser:

rs730881151

Molecular consequence:

NM_000366.6:c.62G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001018004.2:c.62G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001018005.2:c.62G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001018006.2:c.62G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001018007.2:c.62G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001018020.2:c.62G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001301244.2:c.62G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001365776.1:c.62G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001365777.1:c.62G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001365778.1:c.62G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001365779.1:c.62G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000318597	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (3/2017))	Uncertain significance (Aug 20, 2019)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 28138913, 28797094 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000318597

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))

Uncertain significance
(Aug 20, 2019)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data.

Alejandra Restrepo-Cordoba M, Campuzano O, Ripoll-Vera T, Cobo-Marcos M, Mademont-Soler I, Gámez JM, Dominguez F, Gonzalez-Lopez E, Padron-Barthe L, Lara-Pezzi E, Alonso-Pulpon L, Brugada R, Garcia-Pavia P.

J Cardiovasc Transl Res. 2017 Feb;10(1):35-46. doi: 10.1007/s12265-017-9730-8. Epub 2017 Jan 30. Review. Erratum in: J Cardiovasc Transl Res. 2019 Jul 15;:.

PubMed [citation]

PMID:: 28138913

Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy.

Mendes de Almeida R, Tavares J, Martins S, Carvalho T, Enguita FJ, Brito D, Carmo-Fonseca M, Lopes LR.

PLoS One. 2017;12(8):e0182946. doi: 10.1371/journal.pone.0182946.

PubMed [citation]

PMID:: 28797094
PMCID:: PMC5552324

Details of each submission

From Ambry Genetics, SCV000318597.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

The p.R21L variant (also known as c.62G>T), located in coding exon 1 of the TPM1 gene, results from a G to T substitution at nucleotide position 62. The arginine at codon 21 is replaced by leucine, an amino acid with dissimilar properties. This alteration has been reported in subjects with hypertrophic cardiomyopathy (HCM) (Alejandra Restrepo-Cordoba M et al. J Cardiovasc Transl Res, 2017 Feb;10:35-46; Mendes de Almeida R et al. PLoS ONE, 2017 Aug;12:e0182946). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jun 18, 2022

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