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NM_003098.3(SNTA1):c.1256G>A (p.Arg419His) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 15, 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:
RCV000171104.2

Allele description [Variation Report for NM_003098.3(SNTA1):c.1256G>A (p.Arg419His)]

NM_003098.3(SNTA1):c.1256G>A (p.Arg419His)

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.1256G>A (p.Arg419His)
Other names:
p.R419H:CGT>CAT
HGVS:
  • NC_000020.11:g.33408870C>T
  • NG_011622.1:g.40023G>A
  • NM_003098.3:c.1256G>AMANE SELECT
  • NP_003089.1:p.Arg419His
  • NP_003089.1:p.Arg419His
  • LRG_332t1:c.1256G>A
  • LRG_332:g.40023G>A
  • LRG_332p1:p.Arg419His
  • NC_000020.10:g.31996676C>T
  • NM_003098.2:c.1256G>A
Protein change:
R419H
Links:
dbSNP: rs751302839
NCBI 1000 Genomes Browser:
rs751302839
Molecular consequence:
  • NM_003098.3:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000223669GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 15, 2014) 		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, SCV000223669.11

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

Description

The R419H variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The R419H variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Nevertheless, the R419H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Furthermore, no missense mutations in nearby residues have been reported in association with LQTS, indicating this region of the protein may be tolerant of change.Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in LQT panel(s).

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

Last Updated: May 1, 2024