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NM_000371.4(TTR):c.122G>A (p.Arg41Gln) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 24, 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:
RCV003343724.2

Allele description [Variation Report for NM_000371.4(TTR):c.122G>A (p.Arg41Gln)]

NM_000371.4(TTR):c.122G>A (p.Arg41Gln)

Gene:
TTR:transthyretin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_000371.4(TTR):c.122G>A (p.Arg41Gln)
HGVS:
  • NC_000018.10:g.31592948G>A
  • NG_009490.1:g.6182G>A
  • NM_000371.4:c.122G>AMANE SELECT
  • NP_000362.1:p.Arg41Gln
  • NP_000362.1:p.Arg41Gln
  • LRG_416t1:c.122G>A
  • LRG_416:g.6182G>A
  • LRG_416p1:p.Arg41Gln
  • NC_000018.9:g.29172911G>A
  • NM_000371.3:c.122G>A
Protein change:
R41Q
Links:
dbSNP: rs879254269
NCBI 1000 Genomes Browser:
rs879254269
Molecular consequence:
  • NM_000371.4:c.122G>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
SCV004073924Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 24, 2023) 		germlineclinical testing

PubMed (6)
[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

The value of electrochemical skin conductance measurement using Sudoscan® in the assessment of patients with familial amyloid polyneuropathy.

Lefaucheur JP, Zouari HG, Gorram F, Nordine T, Damy T, Planté-Bordeneuve V.

Clin Neurophysiol. 2018 Aug;129(8):1565-1569. doi: 10.1016/j.clinph.2018.05.005. Epub 2018 May 29.

PubMed [citation]
PMID:
29883834

Transthyretin cardiac amyloidosis in continental Western Europe: an insight through the Transthyretin Amyloidosis Outcomes Survey (THAOS).

Damy T, Kristen AV, Suhr OB, Maurer MS, Planté-Bordeneuve V, Yu CR, Ong ML, Coelho T, Rapezzi C; THAOS Investigators..

Eur Heart J. 2022 Feb 3;43(5):391-400. doi: 10.1093/eurheartj/ehz173.

PubMed [citation]
PMID:
30938420
PMCID:
PMC8825236
See all PubMed Citations (6)

Details of each submission

From Ambry Genetics, SCV004073924.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

The p.R41Q variant (also known as c.122G>A), located in coding exon 2 of the TTR gene, results from a G to A substitution at nucleotide position 122. The arginine at codon 41 is replaced by glutamine, an amino acid with highly similar properties. This alteration, which is also known as p.R21Q, has been reported in transthyretin (TTR) amyloidosis cohorts and individuals with hypertrophic cardiomyopathy (HCM); however, clinical details were limited in some cases (Lefaucheur JP et al. Clin Neurophysiol, 2018 Aug;129:1565-1569; Damy T et al. Eur Heart J, 2019 Apr;43:391-400; Dang J et al. Mayo Clin Proc, 2019 Jun;94:961-975; Lopes LR et al. Amyloid, 2019 Dec;26:243-247; Auer-Grumbach M et al. J Clin Med, 2020 Jul;9:[ePub ahead of print]; Bézard M et al. Eur J Heart Fail, 2021 Feb;23:264-274). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024