ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.7864C>T (rs139318843)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523147 SCV000616686 likely pathogenic not provided 2021-07-02 criteria provided, single submitter clinical testing Located at the Y position in a Gly-X-Y repeat within triple-helical region; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 26707537, 20920254, 20555349, 20598510, 20184583, 12485454, 21448560, 27535533, 31001817, 22266148, 31589614, 33274474)
Invitae RCV000523147 SCV001397071 pathogenic not provided 2020-10-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 2622 of the COL7A1 protein (p.Arg2622Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs139318843, ExAC 0.02%). This variant has been observed in individuals with autosomal recessive dystrophic epidermolysis bullosa (PMID: 22266148, 20184583, 21448560, 12485454). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 449005). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.
Biomedical Innovation Departament, CIEMAT RCV001352870 SCV001547384 pathogenic Dystrophic epidermolysis bullosa 2016-07-13 criteria provided, single submitter research

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