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NM_000371.4(TTR):c.418G>T (p.Ala140Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 23, 2017
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:
RCV000588714.1

Allele description [Variation Report for NM_000371.4(TTR):c.418G>T (p.Ala140Ser)]

NM_000371.4(TTR):c.418G>T (p.Ala140Ser)

Gene:
TTR:transthyretin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_000371.4(TTR):c.418G>T (p.Ala140Ser)
HGVS:
  • NC_000018.10:g.31598649G>T
  • NG_009490.1:g.11883G>T
  • NM_000371.4:c.418G>TMANE SELECT
  • NP_000362.1:p.Ala140Ser
  • NP_000362.1:p.Ala140Ser
  • LRG_416t1:c.418G>T
  • LRG_416:g.11883G>T
  • LRG_416p1:p.Ala140Ser
  • NC_000018.9:g.29178612G>T
  • NM_000371.3:c.418G>T
  • P02766:p.Ala140Ser
Protein change:
A140S
Links:
UniProtKB: P02766#VAR_038986; dbSNP: rs876658108
NCBI 1000 Genomes Browser:
rs876658108
Molecular consequence:
  • NM_000371.4:c.418G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000696635Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Uncertain significance
(Mar 23, 2017)
germlineclinical testing

PubMed (9)
[See all records that cite these PMIDs]

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Summary from all submissions

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

Citations

PubMed

The hereditary amyloidoses.

Benson MD.

Best Pract Res Clin Rheumatol. 2003 Dec;17(6):909-27. Review.

PubMed [citation]
PMID:
15123043

Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.

Lachmann HJ, Booth DR, Booth SE, Bybee A, Gilbertson JA, Gillmore JD, Pepys MB, Hawkins PN.

N Engl J Med. 2002 Jun 6;346(23):1786-91.

PubMed [citation]
PMID:
12050338
See all PubMed Citations (9)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000696635.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)

Description

Variant summary: The TTR c.418G>T (p.Ala140Ser) variant located in the beta strand 11 (via Polimanti_2014) involves the alteration of a conserved nucleotide and 3/4 in silico tools (SNPs&GO not captured due to low reliability index) predict a damaging outcome, although these predictions have yet to be functionally assessed. This variant is absent in 121370 control chromosomes (ExAC). Multiple publications have cited the variant, however, due to geographical/site overlap, it seems as though the same two affected patients are being cited, therefore, there is limited available clinical studies. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance. Until functional data and additional clinical data become available, this variant is classified as a "Variant of Uncertain Significance - Possibly Pathogenic."

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

Last Updated: Jul 15, 2024