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NM_001267550.2(TTN):c.71581T>C (p.Tyr23861His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Sep 25, 2021)
Last evaluated:
Apr 8, 2021
Accession:
VCV000679528.3
Variation ID:
679528
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.71581T>C (p.Tyr23861His)

Allele ID
655263
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178574551 (GRCh38) GRCh38 UCSC
2: 179439278 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.261252T>C
NC_000002.11:g.179439278A>G
NC_000002.12:g.178574551A>G
... more HGVS
Protein change
Y14988H, Y21293H, Y22220H, Y23861H, Y14796H, Y14921H
Other names
-
Canonical SPDI
NC_000002.12:178574550:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00006
Links
dbSNP: rs759611506
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 Apr 8, 2021 RCV000839202.2
Uncertain significance 1 no assertion criteria provided - RCV001257028.1
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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
(Apr 08, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000981088.1
Submitted: (Sep 25, 2021)
Evidence details
Comment:
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants … (more)
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
Rare genetic intellectual disability
Allele origin: paternal
Service de Génétique Moléculaire,Hôpital Robert Debré
Accession: SCV001433584.1
Submitted: (Mar 26, 2020)
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 rs759611506...

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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 Nov 27, 2021