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NM_006440.5(TXNRD2):c.1123G>C (p.Gly375Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 25, 2019
Accession:
VCV000943017.2
Variation ID:
943017
Description:
single nucleotide variant
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NM_006440.5(TXNRD2):c.1123G>C (p.Gly375Arg)

Allele ID
939200
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q11.21
Genomic location
22: 19880681 (GRCh38) GRCh38 UCSC
22: 19868204 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.19868204C>G
NC_000022.11:g.19880681C>G
NM_006440.5:c.1123G>C MANE Select NP_006431.2:p.Gly375Arg missense
... more HGVS
Protein change
G279R, G345R, G375R, G374R
Other names
-
Canonical SPDI
NC_000022.11:19880680:C:G
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 Oct 25, 2019 RCV001213120.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TXNRD2 - - GRCh38
GRCh37
355 753

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 25, 2019)
criteria provided, single submitter
Method: clinical testing
Primary dilated cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV001384737.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glycine with arginine at codon 375 of the TXNRD2 protein (p.Gly375Arg). The glycine residue is highly 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 Jul 29, 2021