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NM_001267550.2(TTN):c.64720G>A (p.Ala21574Thr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Sep 23, 2021)
Last evaluated:
Feb 13, 2019
Accession:
VCV000506670.5
Variation ID:
506670
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.64720G>A (p.Ala21574Thr)

Allele ID
499379
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178584921 (GRCh38) GRCh38 UCSC
2: 179449648 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.250882G>A
NC_000002.11:g.179449648C>T
NC_000002.12:g.178584921C>T
... more HGVS
Protein change
A19933T, A21574T, A12509T, A12701T, A12634T, A19006T
Other names
-
Canonical SPDI
NC_000002.12:178584920:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00005
The Genome Aggregation Database (gnomAD), exomes 0.00010
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00002
Exome Aggregation Consortium (ExAC) 0.00009
Links
ClinGen: CA1991849
dbSNP: rs578085621
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 15, 2016 RCV000621472.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Feb 13, 2019 RCV000993467.2
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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
7708 17954
TTN-AS1 - - - GRCh38 - 10018

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 04, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001146460.1
Submitted: (Sep 25, 2019)
Evidence details
Uncertain significance
(Sep 15, 2016)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000737168.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.A12509T variant (also known as c.37525G>A), located in coding exon 137 of the TTN gene, results from a G to A substitution at nucleotide … (more)
Likely benign
(Feb 13, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000714786.2
Submitted: (Sep 23, 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs578085621...

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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 Dec 04, 2021