U.S. flag

An official website of the United States government

NM_003098.3(SNTA1):c.388T>C (p.Phe130Leu) AND Sick sinus syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 17, 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:
RCV000515802.2

Allele description [Variation Report for NM_003098.3(SNTA1):c.388T>C (p.Phe130Leu)]

NM_003098.3(SNTA1):c.388T>C (p.Phe130Leu)

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.388T>C (p.Phe130Leu)
HGVS:
  • NC_000020.11:g.33438949A>G
  • NG_011622.1:g.9944T>C
  • NM_003098.3:c.388T>CMANE SELECT
  • NP_003089.1:p.Phe130Leu
  • NP_003089.1:p.Phe130Leu
  • LRG_332t1:c.388T>C
  • LRG_332:g.9944T>C
  • LRG_332p1:p.Phe130Leu
  • NC_000020.10:g.32026755A>G
  • NM_003098.2:c.388T>C
Protein change:
F130L
Links:
dbSNP: rs199964677
NCBI 1000 Genomes Browser:
rs199964677
Molecular consequence:
  • NM_003098.3:c.388T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Sick sinus syndrome
Identifiers:
MONDO: MONDO:0001823; MedGen: C0037052; Human Phenotype Ontology: HP:0011704

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000611727Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 17, 2017) 		germlineresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre, SCV000611727.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedresearch PubMed (1)

Description

Patient was diagnosed with sick sinus syndrome at 10 years of age. No sinus rhythm was ever registered, the patient has permanent distal atrial rhythm with signs of early depolarization syndrome. At 16 years of age, he presented with syncope. Currently there are no indications for pacemaker implantation, atrial rhythm has proper rise upon physical activity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024