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NM_000335.5(SCN5A):c.1588T>G (p.Phe530Val) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 8, 2020
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:
RCV004019035.1

Allele description [Variation Report for NM_000335.5(SCN5A):c.1588T>G (p.Phe530Val)]

NM_000335.5(SCN5A):c.1588T>G (p.Phe530Val)

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.1588T>G (p.Phe530Val)
HGVS:
  • NC_000003.12:g.38604014A>C
  • NG_008934.1:g.50659T>G
  • NM_000335.5:c.1588T>GMANE SELECT
  • NM_001099404.2:c.1588T>G
  • NM_001099405.2:c.1588T>G
  • NM_001160160.2:c.1588T>G
  • NM_001160161.2:c.1588T>G
  • NM_001354701.2:c.1588T>G
  • NM_198056.3:c.1588T>G
  • NP_000326.2:p.Phe530Val
  • NP_001092874.1:p.Phe530Val
  • NP_001092875.1:p.Phe530Val
  • NP_001153632.1:p.Phe530Val
  • NP_001153633.1:p.Phe530Val
  • NP_001341630.1:p.Phe530Val
  • NP_932173.1:p.Phe530Val
  • NP_932173.1:p.Phe530Val
  • LRG_289t1:c.1588T>G
  • LRG_289:g.50659T>G
  • LRG_289p1:p.Phe530Val
  • NC_000003.11:g.38645505A>C
  • NM_198056.2:c.1588T>G
  • Q14524:p.Phe530Val
Protein change:
F530V
Links:
UniProtKB: Q14524#VAR_074712; dbSNP: rs199473120
NCBI 1000 Genomes Browser:
rs199473120
Molecular consequence:
  • NM_000335.5:c.1588T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.1588T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.1588T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.1588T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.1588T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.1588T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.1588T>G - 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
SCV004943816Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 8, 2020) 		germlineclinical testing

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 Ambry Genetics, SCV004943816.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1588T>G (p.F530V) alteration is located in exon 12 (coding exon 11) of the SCN5A gene. This alteration results from a T to G substitution at nucleotide position 1588, causing the phenylalanine (F) at amino acid position 530 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024