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NM_000335.5(SCN5A):c.1712G>T (p.Ser571Ile) AND SCN5A-related disorder

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV004545871.1

Allele description [Variation Report for NM_000335.5(SCN5A):c.1712G>T (p.Ser571Ile)]

NM_000335.5(SCN5A):c.1712G>T (p.Ser571Ile)

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.1712G>T (p.Ser571Ile)
HGVS:
  • NC_000003.12:g.38603890C>A
  • NG_008934.1:g.50783G>T
  • NM_000335.5:c.1712G>TMANE SELECT
  • NM_001099404.2:c.1712G>T
  • NM_001099405.2:c.1712G>T
  • NM_001160160.2:c.1712G>T
  • NM_001160161.2:c.1712G>T
  • NM_001354701.2:c.1712G>T
  • NM_198056.3:c.1712G>T
  • NP_000326.2:p.Ser571Ile
  • NP_000326.2:p.Ser571Ile
  • NP_001092874.1:p.Ser571Ile
  • NP_001092875.1:p.Ser571Ile
  • NP_001153632.1:p.Ser571Ile
  • NP_001153633.1:p.Ser571Ile
  • NP_001341630.1:p.Ser571Ile
  • NP_932173.1:p.Ser571Ile
  • NP_932173.1:p.Ser571Ile
  • LRG_289t1:c.1712G>T
  • LRG_289t2:c.1712G>T
  • LRG_289:g.50783G>T
  • LRG_289p1:p.Ser571Ile
  • LRG_289p2:p.Ser571Ile
  • NC_000003.11:g.38645381C>A
  • NM_000335.4:c.1712G>T
  • NM_198056.2:c.1712G>T
  • Q14524:p.Ser571Ile
Protein change:
S571I
Links:
UniProtKB: Q14524#VAR_074715; dbSNP: rs199473126
NCBI 1000 Genomes Browser:
rs199473126
Molecular consequence:
  • NM_000335.5:c.1712G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.1712G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.1712G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.1712G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.1712G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.1712G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.1712G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
SCN5A-related disorder
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004228985GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV004228985.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 10-10-2018 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024