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NM_001848.3(COL6A1):c.1945G>A (p.Glu649Lys)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Dec 17, 2018
Accession:
VCV000522912.3
Variation ID:
522912
Description:
single nucleotide variant
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NM_001848.3(COL6A1):c.1945G>A (p.Glu649Lys)

Allele ID
513666
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
21q22.3
Genomic location
21: 46001375 (GRCh38) GRCh38 UCSC
21: 47421289 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000021.8:g.47421289G>A
NC_000021.9:g.46001375G>A
NG_008674.1:g.24627G>A
... more HGVS
Protein change
E649K
Other names
-
Canonical SPDI
NC_000021.9:46001374:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD) 0.00004
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA10070661
dbSNP: rs764129993
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 17, 2018 RCV000626107.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL6A1 - - GRCh38
GRCh37
1123 1217

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Dec 18, 2017)
criteria provided, single submitter
Method: clinical testing
Bethlem myopathy 1
Allele origin: inherited
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000746734.1
Submitted: (Dec 18, 2017)
Evidence details
Uncertain significance
(Dec 17, 2018)
criteria provided, single submitter
Method: clinical testing
Bethlem myopathy 1
Allele origin: germline
Invitae
Accession: SCV000949659.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces glutamic acid with lysine at codon 649 of the COL6A1 protein (p.Glu649Lys). The glutamic acid residue is moderately conserved and there … (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 rs764129993...

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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 Dec 04, 2021