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NM_000094.4(COL7A1):c.2666C>T (p.Pro889Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 25, 2020
Accession:
VCV001000154.1
Variation ID:
1000154
Description:
single nucleotide variant
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NM_000094.4(COL7A1):c.2666C>T (p.Pro889Leu)

Allele ID
989639
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 48588326 (GRCh38) GRCh38 UCSC
3: 48625759 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.48625759G>A
NC_000003.12:g.48588326G>A
NM_000094.4:c.2666C>T MANE Select NP_000085.1:p.Pro889Leu missense
... more HGVS
Protein change
P889L
Other names
-
Canonical SPDI
NC_000003.12:48588325:G:A
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 25, 2020 RCV001296247.1
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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 25, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001485205.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces proline with leucine at codon 889 of the COL7A1 protein (p.Pro889Leu). The proline residue is moderately 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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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 12, 2021