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NM_001848.2(COL6A1):c.1425del (p.Gly476fs)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 29, 2019)
Last evaluated:
Jun 19, 2018
Accession:
VCV000224705.3
Variation ID:
224705
Description:
1bp deletion
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NM_001848.2(COL6A1):c.1425del (p.Gly476fs)

Allele ID
226487
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
21q22.3
Genomic location
21: 45997445 (GRCh38) GRCh38 UCSC
21: 47417359 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000021.8:g.47417361del
NC_000021.9:g.45997447del
NG_008674.1:g.20699del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000021.9:45997444:AAA:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10070299
dbSNP: rs878854398
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Jun 19, 2018 RCV000255364.1
Uncertain significance 1 criteria provided, single submitter Dec 1, 2015 RCV000228165.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL6A1 - - GRCh38
GRCh37
1096 1189

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 01, 2015)
criteria provided, single submitter
Method: research
not specified
Allele origin: unknown
Center for Genetic Medicine Research,Children's National Medical Center
Accession: SCV000265828.2
Submitted: (Jan 25, 2016)
Evidence details
Publications
PubMed (1)
Pathogenic
(Jun 19, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000333904.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely pathogenic
(Dec 23, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000322513.6
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.1425delA variant in the COL6A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The … (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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Title Author Journal Year Link
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. Punetha J Journal of neuromuscular diseases 2016 PMID: 27854218
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=COL6A1 - - - -

Text-mined citations for rs878854398...

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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 29, 2021