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NM_000094.4(COL7A1):c.6937-10C>A

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 8, 2020
Accession:
VCV001020740.1
Variation ID:
1020740
Description:
single nucleotide variant
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NM_000094.4(COL7A1):c.6937-10C>A

Allele ID
1004817
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 48572431 (GRCh38) GRCh38 UCSC
3: 48609864 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.48609864G>T
NC_000003.12:g.48572431G>T
NM_000094.4:c.6937-10C>A MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:48572430:G: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 criteria provided, single submitter Oct 8, 2020 RCV001320370.1
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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
(Oct 08, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001511152.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change falls in intron 88 of the COL7A1 gene. It does not directly change the encoded amino acid sequence of the COL7A1 protein. … (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 Mar 17, 2021