NM_003280.3(TNNC1):c.476G>A (p.Gly159Asp) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 13, 2020
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:: RCV000523060.2

Allele description [Variation Report for NM_003280.3(TNNC1):c.476G>A (p.Gly159Asp)]

NM_003280.3(TNNC1):c.476G>A (p.Gly159Asp)

Gene:

TNNC1:troponin C1, slow skeletal and cardiac type [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.1

Genomic location:

Preferred name:

NM_003280.3(TNNC1):c.476G>A (p.Gly159Asp)

HGVS:

NC_000003.12:g.52451285C>T
NG_008963.1:g.7757G>A
NG_033112.1:g.778C>T
NM_003280.3:c.476G>AMANE SELECT
NP_003271.1:p.Gly159Asp
LRG_378t1:c.476G>A
LRG_378:g.7757G>A
LRG_378p1:p.Gly159Asp
NC_000003.11:g.52485301C>T
NM_003280.2:c.476G>A

Protein change:

G159D; GLY159ASP

Links:

OMIM: 191040.0001; dbSNP: rs104893823

NCBI 1000 Genomes Browser:

rs104893823

Molecular consequence:

NM_003280.3:c.476G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000617244	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Jan 13, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000617244

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Jan 13, 2020)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000617244.1

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

Description

Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Functional studies demonstrate this variant reduces the calcium sensitivity and impairs interaction with troponin (Mogensen et al., 2004; Dweck et al., 2008; Dyer et al., 2009); This variant is associated with the following publications: (PMID: 15542288, 15923195, 18056765, 26232335, 17021793, 26109583, 30065175, 19808376, 17932326, 17446435, 18820258, 18803402, 23539503, 26183555, 21832052, 23008774, 17577574, 17977476, 29093449, 28352236, 29636697)

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

Last Updated: Mar 30, 2024

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