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NM_000129.4(F13A1):c.1998A>G (p.Val666=)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 12, 2018
Accession:
VCV000909574.1
Variation ID:
909574
Description:
single nucleotide variant
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NM_000129.4(F13A1):c.1998A>G (p.Val666=)

Allele ID
896718
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p25.1
Genomic location
6: 6151860 (GRCh38) GRCh38 UCSC
6: 6152093 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_549t1:c.1998A>G
LRG_549:g.173832A>G
NC_000006.11:g.6152093T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:6151859: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 12, 2018 RCV001160712.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
F13A1 - - GRCh38
GRCh37
162 200

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Factor XIII, A subunit, deficiency of
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001322534.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (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 Mar 28, 2021