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NM_000165.5(GJA1):c.440T>C (p.Met147Thr)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Jan 13, 2017
Most recent Submission:
Jan 13, 2017
Last evaluated:
Jul 2, 2014
Accession:
VCV000374068.2
Variation ID:
374068
Description:
single nucleotide variant
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NM_000165.5(GJA1):c.440T>C (p.Met147Thr)

Allele ID
360871
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q22.31
Genomic location
6: 121447287 (GRCh38) GRCh38 UCSC
6: 121768433 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000165.5:c.440T>C MANE Select NP_000156.1:p.Met147Thr missense
NC_000006.12:g.121447287T>C
NC_000006.11:g.121768433T>C
... more HGVS
Protein change
M147T
Other names
-
Canonical SPDI
NC_000006.12:121447286:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16043410
dbSNP: rs1057518872
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Bilateral microphthalmos
Cutaneous finger syndactyly
Intellectual disability
Pathogenic 1 criteria provided, single submitter Jul 2, 2014 RCV000414769.3
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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 		248 272

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
 Review status
(Assertion criteria)
 Condition
(Inheritance)
 Submitter More information
Pathogenic
(Jul 02, 2014)
 criteria provided, single submitter
(ACMG Guidelines, 2015)
Method: clinical testing
Affected status: yes
Allele origin: unknown
Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV000492798.1
First in ClinVar: Jan 13, 2017
Last updated: Jan 13, 2017

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 rs1057518872...

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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 Sep 30, 2023 

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