NM_000094.3(COL7A1):c.4448G>A (p.Gly1483Asp) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 6, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000331750.1

Allele description [Variation Report for NM_000094.3(COL7A1):c.4448G>A (p.Gly1483Asp)]

NM_000094.3(COL7A1):c.4448G>A (p.Gly1483Asp)

Gene:
COL7A1:collagen type VII alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_000094.3(COL7A1):c.4448G>A (p.Gly1483Asp)
HGVS:
  • NC_000003.12:g.48583161C>T
  • NG_007065.1:g.17092G>A
  • NM_000094.3:c.4448G>A
  • NP_000085.1:p.Gly1483Asp
  • LRG_286t1:c.4448G>A
  • LRG_286:g.17092G>A
  • LRG_286p1:p.Gly1483Asp
  • NC_000003.11:g.48620594C>T
Protein change:
G1483D
Links:
dbSNP: rs756217590
NCBI 1000 Genomes Browser:
rs756217590
Molecular consequence:
  • NM_000094.3:c.4448G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000329316GeneDxcriteria provided, single submitter
Pathogenic
(Jun 6, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000329316.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The G1483D variant in the COL7A1 gene has been reported previously as a pathogenic variant (Almaani et al. 2009). The G1483D variant was observed in the heterozygous state in a mildly affected Kuwati girl with a history of blistering at birth, that healed with minimal scarring, and ceased within the first year of life (Almaani et al. 2011). However, the G1483D variant was also reported in the homozygous state in three Kuwati children from two unrelated families. These affected individuals exhibited skin fragility with generalized recurrent blistering, nail dystrophy, and oral ulcers. All four heterozygous parents were clinically unaffected (Almaani et al. 2011). The G1483D variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G1483D variant is found in the highly conserved Gly-X-Y repeat in the collagenous domain of the colVII protein where it causes destabilization of the collagen triple helix. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this mutation is probably damaging to the protein structure/function. We interpret COL7A1 as a pathogenic variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021

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