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NM_003098.3(SNTA1):c.759T>A (p.Asp253Glu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 29, 2017
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:
RCV000171095.4

Allele description [Variation Report for NM_003098.3(SNTA1):c.759T>A (p.Asp253Glu)]

NM_003098.3(SNTA1):c.759T>A (p.Asp253Glu)

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.759T>A (p.Asp253Glu)
Other names:
p.D253E:GAT>GAA
HGVS:
  • NC_000020.11:g.33412725A>T
  • NG_011622.1:g.36168T>A
  • NM_003098.3:c.759T>AMANE SELECT
  • NP_003089.1:p.Asp253Glu
  • NP_003089.1:p.Asp253Glu
  • LRG_332t1:c.759T>A
  • LRG_332:g.36168T>A
  • LRG_332p1:p.Asp253Glu
  • NC_000020.10:g.32000531A>T
  • NM_003098.2:c.759T>A
Protein change:
D253E
Links:
dbSNP: rs759487225
NCBI 1000 Genomes Browser:
rs759487225
Molecular consequence:
  • NM_003098.3:c.759T>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
SCV000223660GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Aug 29, 2017) 		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, SCV000223660.12

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

Description

The D253E variant of uncertain significance in the SNTA1 gene has not been published as pathogenic or been reported as benign to our knowledge. However, this variant has been observed in other unrelated individuals referred for cardiac genetic testing at GeneDx. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Nevertheless, the D253E variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Furthermore, the D253E variant was observed in 6/63,534 alleles from individuals of European (Non-Finnish) ancestry in the Exome Aggregation Consortium (ExAC) (Lek et al., 2016).

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

Last Updated: May 1, 2024