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NM_004369.4(COL6A3):c.6193G>C (p.Gly2065Arg)

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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:
Jan 10, 2018
Accession:
VCV000284796.1
Variation ID:
284796
Description:
single nucleotide variant
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NM_004369.4(COL6A3):c.6193G>C (p.Gly2065Arg)

Allele ID
269033
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q37.3
Genomic location
2: 237361138 (GRCh38) GRCh38 UCSC
2: 238269781 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_004369.3:c.6193G>C NP_004360.2:p.Gly2065Arg missense
LRG_473:g.58070G>C
LRG_473t1:c.6193G>C LRG_473p1:p.Gly2065Arg
... more HGVS
Protein change
G2065R, G1458R, G1859R
Other names
-
Canonical SPDI
NC_000002.12:237361137:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10604911
dbSNP: rs397515332
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 Dec 11, 2015 RCV000329760.1
Pathogenic 1 criteria provided, single submitter Jan 10, 2018 RCV000653528.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL6A3 - - GRCh38
GRCh37
1882 1962

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Dec 11, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000337555.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(Jan 10, 2018)
criteria provided, single submitter
Method: clinical testing
Bethlem myopathy 1
Allele origin: germline
Invitae
Accession: SCV000775409.2
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change replaces glycine with arginine at codon 2065 of the COL6A3 protein (p.Gly2065Arg). The glycine residue is highly conserved and there is a … (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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. Stehlíková K Clinical genetics 2017 PMID: 27447704
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. Butterfield RJ Human mutation 2013 PMID: 24038877
Collagen structure and stability. Shoulders MD Annual review of biochemistry 2009 PMID: 19344236
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. Pace RA Annals of neurology 2008 PMID: 18825676
Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. Bella J Science (New York, N.Y.) 1994 PMID: 7695699
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=COL6A3 - - - -

Text-mined citations for rs397515332...

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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 24, 2021