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NM_000094.4(COL7A1):c.4859G>A (p.Arg1620Gln)

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Mar 31, 2021)
Accession:
VCV001049486.1
Variation ID:
1049486
Description:
single nucleotide variant
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NM_000094.4(COL7A1):c.4859G>A (p.Arg1620Gln)

Allele ID
1037408
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 48581300 (GRCh38) GRCh38 UCSC
3: 48618733 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.48618733C>T
NC_000003.12:g.48581300C>T
NM_000094.4:c.4859G>A MANE Select NP_000085.1:p.Arg1620Gln missense
... more HGVS
Protein change
R1620Q
Other names
-
Canonical SPDI
NC_000003.12:48581299:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 no assertion criteria provided - RCV001355646.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL7A1 - - GRCh38
GRCh37
1621 1642

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Department of Pathology and Laboratory Medicine,Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001550589.1
Submitted: (Mar 31, 2021)
Evidence details
Comment:
The COL7A1 p.Arg1620Gln variant was not identified in the literature nor was it identified in ClinVar or LOVD 3.0. The variant was identified in dbSNP … (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.

Record last updated Apr 12, 2021