ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.2471dup (p.Asn825fs) (rs746056280)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001388796 SCV001589935 pathogenic not provided 2020-10-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn825Lysfs*41) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs746056280, ExAC 0.04%). This variant has been observed in individual(s) with autosomal recessive dystrophic epidermolysis bullosa (PMID: 29473190). ClinVar contains an entry for this variant (Variation ID: 17425). Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000018971 SCV000039258 pathogenic Recessive dystrophic epidermolysis bullosa 1994-05-01 no assertion criteria provided literature only
GeneDx RCV001388796 SCV001802785 pathogenic not provided 2019-04-26 no assertion criteria provided clinical testing Reported to be most frequent pathogenic variant in COL7A1 in Hispanic Mexican populations (Salas-Alanis et al., 2000; Moreno-Trevino et al., 2014); Frameshift variant predicted to result in nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 10944088, 25308504, 29473190, 9666834, 24210835, 16548289)

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