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NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Sep 30, 2021)
Last evaluated:
May 10, 2021
Accession:
VCV000218630.12
Variation ID:
218630
Description:
single nucleotide variant
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NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile)

Allele ID
215253
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q37.3
Genomic location
2: 237372011 (GRCh38) GRCh38 UCSC
2: 238280654 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.238280654C>T
NM_004369.3:c.4006G>A NP_004360.2:p.Val1336Ile missense
LRG_473:g.47197G>A
... more HGVS
Protein change
V1336I, V1130I, V929I, V729I
Other names
-
Canonical SPDI
NC_000002.12:237372010:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00100 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00057
1000 Genomes Project 0.00100
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00068
The Genome Aggregation Database (gnomAD) 0.00006
Links
ClinGen: CA248984
dbSNP: rs144051775
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Nov 10, 2020 RCV001083049.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 9, 2015 RCV000202790.4
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations May 10, 2021 RCV000539163.7
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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
Uncertain significance
(Jul 01, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia
Accession: SCV000257955.2
Submitted: (Aug 10, 2015)
Evidence details
Benign
(Dec 09, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000331369.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
http://www.ncbi.nlm.nih.gov/vari…
Likely benign
(Nov 10, 2020)
criteria provided, single submitter
Method: clinical testing
Bethlem myopathy 1
Allele origin: germline
Invitae
Accession: SCV000657301.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(May 10, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000528292.5
Submitted: (Sep 30, 2021)
Evidence details
Uncertain significance
(Jun 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001153371.7
Submitted: (Jul 04, 2021)
Evidence details

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.

Text-mined citations for rs144051775...

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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 30, 2021