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NM_003098.3(SNTA1):c.370G>A (p.Asp124Asn) AND Long QT syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 8, 2014
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:
RCV001344355.8

Allele description [Variation Report for NM_003098.3(SNTA1):c.370G>A (p.Asp124Asn)]

NM_003098.3(SNTA1):c.370G>A (p.Asp124Asn)

Gene:
SNTA1:syntrophin alpha 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q11.21
Genomic location:
Preferred name:
NM_003098.3(SNTA1):c.370G>A (p.Asp124Asn)
HGVS:
  • NC_000020.11:g.33438967C>T
  • NG_011622.1:g.9926G>A
  • NM_003098.3:c.370G>AMANE SELECT
  • NP_003089.1:p.Asp124Asn
  • LRG_332:g.9926G>A
  • NC_000020.10:g.32026773C>T
Protein change:
D124N
Links:
dbSNP: rs1430826527
NCBI 1000 Genomes Browser:
rs1430826527
Molecular consequence:
  • NM_003098.3:c.370G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Long QT syndrome (LQTS)
Identifiers:
MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001538403Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Aug 8, 2014) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption.

Wu G, Ai T, Kim JJ, Mohapatra B, Xi Y, Li Z, Abbasi S, Purevjav E, Samani K, Ackerman MJ, Qi M, Moss AJ, Shimizu W, Towbin JA, Cheng J, Vatta M.

Circ Arrhythm Electrophysiol. 2008 Aug;1(3):193-201. doi: 10.1161/CIRCEP.108.769224.

PubMed [citation]
PMID:
19684871
PMCID:
PMC2726717

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001538403.4

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

Description

This substitution affects a highly conserved amino acid. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, MutationTaster, AlignGVGD) return conflicting predictions. This sequence change has not been reported in affected patients and has not been reported as a common polymorphism in the population. There is no evidence to indicate that this sequence change is pathogenic. SNTA1 is a candidate gene for long QT syndrome, based on identification of rare missense mutations in long QT syndrome patients. (PMID: 19684871). It is possible that this sequence change represents a benign polymorphism in the SNTA1 gene, although at this time the evidence is insufficient to prove that conclusively.

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

Last Updated: Sep 29, 2024