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NM_181703.4(GJA5):c.1057T>G (p.Ser353Ala)

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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:
VCV000876006.1
Variation ID:
876006
Description:
single nucleotide variant
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NM_181703.4(GJA5):c.1057T>G (p.Ser353Ala)

Allele ID
862177
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q21.2
Genomic location
1: 147758182 (GRCh38) GRCh38 UCSC
1: 147230290 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_005266.6:c.1057T>G NP_005257.2:p.Ser353Ala missense
NC_000001.10:g.147230290A>C
NC_000001.11:g.147758182A>C
... more HGVS
Protein change
S353A
Other names
-
Canonical SPDI
NC_000001.11:147758181:A: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 RCV001100362.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GJA5 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
104 376

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
Atrial fibrillation, familial, 11
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001256881.1
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 Oct 24, 2021