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NM_001267550.2(TTN):c.44323G>A (p.Val14775Met)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Aug 31, 2021)
Last evaluated:
Sep 26, 2019
Accession:
VCV000572746.3
Variation ID:
572746
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.44323G>A (p.Val14775Met)

Allele ID
557758
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178629402 (GRCh38) GRCh38 UCSC
2: 179494129 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.206401G>A
LRG_391t1:c.44323G>A
NC_000002.11:g.179494129C>T
... more HGVS
Protein change
V14775M, V12207M, V5710M, V5835M, V5902M, V13134M
Other names
-
Canonical SPDI
NC_000002.12:178629401:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00010
1000 Genomes Project 0.00040
Trans-Omics for Precision Medicine (TOPMed) 0.00010
Links
dbSNP: rs540115992
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Sep 28, 2017 RCV000694203.1
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Sep 26, 2019 RCV000756842.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TTN Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
7416 17422

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 28, 2017)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000822636.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces valine with methionine at codon 14775 of the TTN protein (p.Val14775Met). The valine residue is conserved and there is a small … (more)
Uncertain significance
(Mar 15, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000884783.1
Submitted: (Oct 10, 2018)
Evidence details
Comment:
The TTN c.36619G>A; p.Val12207Met variant is rare in the general population (<1% allele frequency in the Genome Aggregation Database) and has not been reported in … (more)
Likely benign
(Sep 26, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001474991.1
Submitted: (Dec 30, 2020)
Evidence details
Likely benign
(Jun 11, 2019)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001813712.1
Submitted: (Aug 31, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs540115992...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 07, 2021