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NM_004369.4(COL6A3):c.6309+1G>T

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 19, 2018)
Last evaluated:
Jun 29, 2017
Accession:
VCV000288503.1
Variation ID:
288503
Description:
single nucleotide variant
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NM_004369.4(COL6A3):c.6309+1G>T

Allele ID
272740
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q37.3
Genomic location
2: 237359361 (GRCh38) GRCh38 UCSC
2: 238268004 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_473:g.59847G>T
LRG_473t1:c.6309+1G>T
NC_000002.11:g.238268004C>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:237359360:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10606112
dbSNP: rs886043919
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jun 6, 2016 RCV000337392.1
Pathogenic 1 criteria provided, single submitter Jun 29, 2017 RCV000760148.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL6A3 - - GRCh38
GRCh37
1865 1968
LOC122889011 - - - GRCh38 - 58

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 06, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000342619.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(Jun 29, 2017)
criteria provided, single submitter
Method: clinical testing
Ullrich congenital muscular dystrophy 1
Allele origin: germline
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
Accession: SCV000889957.1
Submitted: (Aug 22, 2018)
Evidence details
Publications
PubMed (1)

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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Title Author Journal Year Link
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. Lampe AK Human mutation 2008 PMID: 18366090
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=COL6A3 - - - -

Text-mined citations for rs886043919...

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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 Nov 27, 2021