ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5440C>T (p.Arg1814Cys)

gnomAD frequency: 0.00002  dbSNP: rs778035441
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biomedical Innovation Departament, CIEMAT RCV001352698 SCV001547324 pathogenic Epidermolysis bullosa dystrophica 2009-07-17 criteria provided, single submitter research
GeneDx RCV001562826 SCV001785656 likely pathogenic not provided 2020-12-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 20920254, 17425959, 20184583)
Labcorp Genetics (formerly Invitae), Labcorp RCV001562826 SCV003525542 pathogenic not provided 2023-12-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1814 of the COL7A1 protein (p.Arg1814Cys). This variant is present in population databases (rs778035441, gnomAD 0.009%). This missense change has been observed in individual(s) with autosomal recessive epidermolysis bullosa dystrophica (PMID: 17425959, 20184583, 35432467). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1047935). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on COL7A1 protein function. This variant disrupts the p.Arg1814 amino acid residue in COL7A1. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001352698 SCV002079230 likely pathogenic Epidermolysis bullosa dystrophica 2021-05-24 no assertion criteria provided clinical testing

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