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NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) AND Congenital long QT syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000319566.13

Allele description [Variation Report for NM_000335.5(SCN5A):c.1569T>A (p.Arg523=)]

NM_000335.5(SCN5A):c.1569T>A (p.Arg523=)

Gene:
SCN5A:sodium voltage-gated channel alpha subunit 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=)
HGVS:
  • NC_000003.12:g.38604033A>T
  • NG_008934.1:g.50640T>A
  • NM_000335.5:c.1569T>AMANE SELECT
  • NM_001099404.2:c.1569T>A
  • NM_001099405.2:c.1569T>A
  • NM_001160160.2:c.1569T>A
  • NM_001160161.2:c.1569T>A
  • NM_001354701.2:c.1569T>A
  • NM_198056.3:c.1569T>A
  • NP_000326.2:p.Arg523=
  • NP_001092874.1:p.Arg523=
  • NP_001092875.1:p.Arg523=
  • NP_001153632.1:p.Arg523=
  • NP_001153633.1:p.Arg523=
  • NP_001341630.1:p.Arg523=
  • NP_932173.1:p.Arg523=
  • NP_932173.1:p.Arg523=
  • LRG_289t1:c.1569T>A
  • LRG_289:g.50640T>A
  • LRG_289p1:p.Arg523=
  • NC_000003.11:g.38645524A>T
  • NM_198056.2:c.1569T>A
  • p.Arg523Arg
Links:
dbSNP: rs41313693
NCBI 1000 Genomes Browser:
rs41313693
Molecular consequence:
  • NM_000335.5:c.1569T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001099404.2:c.1569T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001099405.2:c.1569T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001160160.2:c.1569T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001160161.2:c.1569T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354701.2:c.1569T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_198056.3:c.1569T>A - synonymous variant - [Sequence Ontology: SO:0001819]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

Name:
Congenital long QT syndrome (RWS)
Synonyms:
Familial long QT syndrome; Romano-Ward syndrome; Ventricular fibrillation with prolonged QT interval
Identifiers:
MONDO: MONDO:0019171; MedGen: C1141890; Orphanet: 768; OMIM: PS192500

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000444149Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000444149.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024