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NM_022173.4(TIA1):c.1108A>G (p.Met370Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 20, 2019
Accession:
VCV000834552.2
Variation ID:
834552
Description:
single nucleotide variant
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NM_022173.4(TIA1):c.1108A>G (p.Met370Val)

Allele ID
826913
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p13.3
Genomic location
2: 70212772 (GRCh38) GRCh38 UCSC
2: 70439904 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.70439904T>C
NC_000002.12:g.70212772T>C
NM_022173.4:c.1108A>G MANE Select NP_071505.2:p.Met370Val missense
... more HGVS
Protein change
M322V, M358V, M361V, M369V, M229V, M269V, M324V, M333V, M359V, M294V, M230V, M370V
Other names
-
Canonical SPDI
NC_000002.12:70212771:T:C
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 Jan 20, 2019 RCV001035262.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TIA1 - - GRCh38
GRCh37
115 125

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 20, 2019)
criteria provided, single submitter
Method: clinical testing
Welander distal myopathy
Allele origin: germline
Invitae
Accession: SCV001198585.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces methionine with valine at codon 370 of the TIA1 protein (p.Met370Val). The methionine residue is weakly conserved and there is a … (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 Apr 12, 2021