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NM_000363.5(TNNI3):c.7G>T (p.Asp3Tyr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
May 16, 2019
Accession:
VCV000948529.2
Variation ID:
948529
Description:
single nucleotide variant
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NM_000363.5(TNNI3):c.7G>T (p.Asp3Tyr)

Allele ID
929118
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.42
Genomic location
19: 55157583 (GRCh38) GRCh38 UCSC
19: 55668951 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.55157583C>A
NC_000019.9:g.55668951C>A
NG_007866.2:g.5150G>T
... more HGVS
Protein change
D3Y
Other names
-
Canonical SPDI
NC_000019.10:55157582:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 May 16, 2019 RCV001219800.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TNNI3 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
438 493

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 16, 2019)
criteria provided, single submitter
Method: clinical testing
Hypertrophic cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV001391757.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces aspartic acid with tyrosine at codon 3 of the TNNI3 protein (p.Asp3Tyr). The aspartic acid residue is moderately conserved and there … (more)

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.

Record last updated Oct 08, 2021