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NM_000094.4(COL7A1):c.4583G>A (p.Gly1528Asp) AND Recessive dystrophic epidermolysis bullosa

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 14, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002277056.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.4583G>A (p.Gly1528Asp)]

NM_000094.4(COL7A1):c.4583G>A (p.Gly1528Asp)

Gene:
COL7A1:collagen type VII alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Preferred name:
NM_000094.4(COL7A1):c.4583G>A (p.Gly1528Asp)
HGVS:
  • NC_000003.12:g.48582494C>T
  • NG_007065.1:g.17759G>A
  • NM_000094.4:c.4583G>AMANE SELECT
  • NP_000085.1:p.Gly1528Asp
  • LRG_286t1:c.4583G>A
  • LRG_286:g.17759G>A
  • NC_000003.11:g.48619927C>T
  • NM_000094.3:c.4583G>A
Protein change:
G1528D
Links:
dbSNP: rs2107718980
Observations:
1

Condition(s)

Name:
Recessive dystrophic epidermolysis bullosa (RDEB)
Synonyms:
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL RECESSIVE; EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009179; MedGen: C0079474; Orphanet: 79408; Orphanet: 79409; OMIM: 226600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002499334Center for Research in Genodermatoses and Epidermolysis Bullosa, University of Buenos Aires
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 14, 2022) 		paternalclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes11not providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation.

Natale MI, Manzur GB, Lusso SB, Cella E, Giovo ME, Andrada R, Goitia J, Fernández MF, Della Giovanna PS, Guillamondegui MJ, Domínguez M, Gutiérrez O, Izquierdo A, Hernández Herrera H, Velázquez Perdomo LG, Mistchenko AS, Valinotto LE.

Am J Med Genet A. 2022 Nov;188(11):3153-3161. doi: 10.1002/ajmg.a.62957. Epub 2022 Aug 18.

PubMed [citation]
PMID:
35979658

Details of each submission

From Center for Research in Genodermatoses and Epidermolysis Bullosa, University of Buenos Aires, SCV002499334.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot provided1not provided1not provided

Last Updated: Jun 29, 2024