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NM_003098.3(SNTA1):c.67G>T (p.Ala23Ser) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 22, 2023
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:
RCV004464426.1

Allele description [Variation Report for NM_003098.3(SNTA1):c.67G>T (p.Ala23Ser)]

NM_003098.3(SNTA1):c.67G>T (p.Ala23Ser)

Genes:
LOC130065680:ATAC-STARR-seq lymphoblastoid silent region 12812 [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.67G>T (p.Ala23Ser)
HGVS:
  • NC_000020.11:g.33443554C>A
  • NG_011622.1:g.5339G>T
  • NG_200097.1:g.176C>A
  • NM_001424413.1:c.67G>T
  • NM_001424414.1:c.67G>T
  • NM_003098.3:c.67G>TMANE SELECT
  • NP_001411342.1:p.Ala23Ser
  • NP_001411343.1:p.Ala23Ser
  • NP_003089.1:p.Ala23Ser
  • NP_003089.1:p.Ala23Ser
  • LRG_332t1:c.67G>T
  • LRG_332:g.5339G>T
  • LRG_332p1:p.Ala23Ser
  • NC_000020.10:g.32031360C>A
  • NM_003098.2:c.67G>T
Protein change:
A23S
Molecular consequence:
  • NM_001424413.1:c.67G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001424414.1:c.67G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003098.3:c.67G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004954453Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 22, 2023) 		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, SCV004954453.1

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

Description

The c.67G>T (p.A23S) alteration is located in exon 1 (coding exon 1) of the SNTA1 gene. This alteration results from a G to T substitution at nucleotide position 67, causing the alanine (A) at amino acid position 23 to be replaced by a serine (S). 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: May 7, 2024