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NM_000335.5(SCN5A):c.3706G>A (p.Val1236Ile) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 28, 2011
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:
RCV000183185.1

Allele description [Variation Report for NM_000335.5(SCN5A):c.3706G>A (p.Val1236Ile)]

NM_000335.5(SCN5A):c.3706G>A (p.Val1236Ile)

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.3706G>A (p.Val1236Ile)
Other names:
p.V1237I:GTT>ATT
HGVS:
  • NC_000003.12:g.38566540C>T
  • NG_008934.1:g.88133G>A
  • NM_000335.5:c.3706G>AMANE SELECT
  • NM_001099404.2:c.3709G>A
  • NM_001099405.2:c.3709G>A
  • NM_001160160.2:c.3706G>A
  • NM_001160161.2:c.3547G>A
  • NM_001354701.2:c.3706G>A
  • NM_198056.3:c.3709G>A
  • NP_000326.2:p.Val1236Ile
  • NP_001092874.1:p.Val1237Ile
  • NP_001092875.1:p.Val1237Ile
  • NP_001153632.1:p.Val1236Ile
  • NP_001153633.1:p.Val1183Ile
  • NP_001341630.1:p.Val1236Ile
  • NP_932173.1:p.Val1237Ile
  • NP_932173.1:p.Val1237Ile
  • LRG_289t1:c.3709G>A
  • LRG_289:g.88133G>A
  • LRG_289p1:p.Val1237Ile
  • NC_000003.11:g.38608031C>T
  • NM_198056.2:c.3709G>A
Protein change:
V1183I
Links:
dbSNP: rs794728932
NCBI 1000 Genomes Browser:
rs794728932
Molecular consequence:
  • NM_000335.5:c.3706G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.3709G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.3709G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.3706G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.3547G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.3706G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.3709G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000235602GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Nov 28, 2011) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000235602.9

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

Description

p.Val1237Ile in the SCN5A gene; variant of unknown clinical significance. The G>A nucleotide substitution in exon 21 of the SCN5A gene, results in replacement of the normal Valine codon (GTT) with an Isoleucine codon (ATT) at amino acid position 1237 in the cardiac sodium voltage-gated channel, type V-a. This missense change is denoted Val1237Ile (aka V1237I) at the protein level and c.3709 G>A at the cDNA level. The Val1237Ile variant in the SCN5A gene has not been published as a disease-causing mutation or as a benign polymorphism, to our knowledge. The Val1237Ile variant results in a conservative amino acid substitution of one non-polar amino acid for another, at a position that is not conserved in other species or in other related proteins. In addition, in-silico analysis predicts Val1237Ile to be benign (Adzhubei IA et a. 2010, Kumar P et al. 2009, Schwarz JM et al. 2010). However, mutations in surrounding codons (Arg1232Trp, Lys1236Asn, Glu1240Gln) have been reported in association with arrhythmia supporting the functional importance of this region of the protein. Finally, Val1237Ile was not observed in up to 200 African American control alleles tested at GeneDx, indicating it is not a benign polymorphism in this population. With the clinical and molecular information available at this time, we cannot unequivocally determine the clinical significance of Val1237Ile in the SCN5A gene. The variant is found in LQT panel(s).

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

Last Updated: May 7, 2024