NM_003476.5(CSRP3):c.437G>A (p.Arg146His) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 17, 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:: RCV004019803.1

Allele description [Variation Report for NM_003476.5(CSRP3):c.437G>A (p.Arg146His)]

NM_003476.5(CSRP3):c.437G>A (p.Arg146His)

Gene:

CSRP3:cysteine and glycine rich protein 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

Preferred name:

NM_003476.5(CSRP3):c.437G>A (p.Arg146His)

HGVS:

NC_000011.10:g.19185023C>T
NG_011932.2:g.30551G>A
NM_001369404.1:c.268G>A
NM_003476.5:c.437G>AMANE SELECT
NP_001356333.1:p.Ala90Thr
NP_003467.1:p.Arg146His
LRG_440t1:c.437G>A
LRG_440:g.30551G>A
NC_000011.9:g.19206570C>T
NM_003476.3:c.437G>A
NM_003476.4:c.437G>A

Protein change:

A90T

Links:

dbSNP: rs377066670

NCBI 1000 Genomes Browser:

rs377066670

Molecular consequence:

NM_001369404.1:c.268G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003476.5:c.437G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV005020978	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 17, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 28790153, 29255176, 30847666 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005020978

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 17, 2023)

germline

clinical testing

PubMed (3)
[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	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.

Burns C, Bagnall RD, Lam L, Semsarian C, Ingles J.

Circ Cardiovasc Genet. 2017 Aug;10(4). doi:pii: e001666. 10.1161/CIRCGENETICS.116.001666.

PubMed [citation]

PMID:: 28790153

Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy.

Robyns T, Kuiperi C, Breckpot J, Devriendt K, Souche E, Van Cleemput J, Willems R, Nuyens D, Matthijs G, Corveleyn A.

Eur J Hum Genet. 2017 Dec;25(12):1313-1323. doi: 10.1038/s41431-017-0004-3. Epub 2017 Oct 10.

PubMed [citation]

PMID:: 29255176
PMCID:: PMC5865127

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV005020978.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The p.R146H variant (also known as c.437G>A), located in coding exon 4 of the CSRP3 gene, results from a G to A substitution at nucleotide position 437. The arginine at codon 146 is replaced by histidine, an amino acid with highly similar properties. This alteration has been reported in cardiomyopathy cohorts; however, clinical details were limited (Robyns T et al. Eur J Hum Genet, 2017 Dec;25:1313-1323; Burns C et al. Circ Cardiovasc Genet, 2017 Aug;10:[ePub ahead of print]; van Lint FHM et al. Neth Heart J, 2019 Jun;27:304-309). 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	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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