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NM_000165.5(GJA1):c.270C>G (p.Leu90=)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 13, 2018
Accession:
VCV000355159.2
Variation ID:
355159
Description:
single nucleotide variant
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NM_000165.5(GJA1):c.270C>G (p.Leu90=)

Allele ID
305692
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q22.31
Genomic location
6: 121447117 (GRCh38) GRCh38 UCSC
6: 121768263 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1289:g.16519C>G
LRG_1289t1:c.270C>G LRG_1289p1:p.Leu90=
NC_000006.11:g.121768263C>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:121447116:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10625701
dbSNP: rs886061009
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 13, 2018 RCV000285882.2
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000336228.2
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000380167.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GJA1 No evidence available No evidence available GRCh38
GRCh37
153 169

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Syndactyly type 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000459819.3
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)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Hypoplastic left heart syndrome 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000459820.3
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)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Oculodentodigital dysplasia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000459821.3
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.

Text-mined citations for rs886061009...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021