ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.90del (p.Cys31fs)

dbSNP: rs747209331
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001594277 SCV001826545 pathogenic not provided 2021-10-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek et al., 2016)
Labcorp Genetics (formerly Invitae), Labcorp RCV001594277 SCV002158206 pathogenic not provided 2022-07-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys31Alafs*73) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL7A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1219081). For these reasons, this variant has been classified as Pathogenic.

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