ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5096C>T (rs121912845)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biomedical Innovation Departament, CIEMAT RCV001352849 SCV001547315 pathogenic Dystrophic epidermolysis bullosa 2018-03-26 criteria provided, single submitter research
OMIM RCV000019002 SCV000039289 pathogenic Epidermolysis bullosa, pretibial, autosomal recessive 2002-12-01 no assertion criteria provided literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001355300 SCV001550150 uncertain significance not provided no assertion criteria provided clinical testing The COL7A1 p.P1699L variant was identified in the literature in a compound heterozygous individual with Dystrophic Epidermolysis Bullosa and a compound heterozygous individual with Aplasia Cutis Congenita in Bullous Dermolysis Gardella_2002_PMID:12485454; Diociaiuti_2016_PMID:26864810). The variant was identified in dbSNP (ID: rs121912845) and ClinVar (classified as pathogenic by OMIM). The variant was identified in control databases in 6 of 273692 chromosomes at a frequency of 0.00002192 (Genome Aggregation Database March 6, 2019, v2.1.1). The p.P1699 residue is conserved in mammals and computational analyses (MUT Assesor, SIFT, MutationTaster, Revel, FATHMM, MetaLR, DANN) suggest that the variant may impact the protein; however, this information is not predictive enough to assume pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (Splice AI exome) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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