NM_001077653.2(TBX20):c.1036C>G (p.Leu346Val) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 12, 2024
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:: RCV004681382.1

Allele description [Variation Report for NM_001077653.2(TBX20):c.1036C>G (p.Leu346Val)]

NM_001077653.2(TBX20):c.1036C>G (p.Leu346Val)

Gene:

TBX20:T-box transcription factor 20 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p14.2

Genomic location:

Preferred name:

NM_001077653.2(TBX20):c.1036C>G (p.Leu346Val)

HGVS:

NC_000007.14:g.35202738G>C
NG_015805.1:g.56362C>G
NM_001077653.2:c.1036C>GMANE SELECT
NP_001071121.1:p.Leu346Val
LRG_755t1:c.1036C>G
LRG_755:g.56362C>G
LRG_755p1:p.Leu346Val
NC_000007.13:g.35242350G>C

Protein change:

L346V

Links:

dbSNP: rs768158277

NCBI 1000 Genomes Browser:

rs768158277

Molecular consequence:

NM_001077653.2:c.1036C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005168683	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 12, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005168683

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 12, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV005168683.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.L346V variant (also known as c.1036C>G), located in coding exon 8 of the TBX20 gene, results from a C to G substitution at nucleotide position 1036. The leucine at codon 346 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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