ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.7708del (p.Asp2570fs)

dbSNP: rs2107639823
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001956456 SCV002245959 pathogenic not provided 2021-11-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Asp2570Thrfs*61) 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 premature translational stop signal has been observed in individual(s) with autosomal recessive dystrophic epidermolysis bullosa (PMID: 22209565).
Center for Research in Genodermatoses and Epidermolysis Bullosa, University of Buenos Aires RCV002276956 SCV002499363 pathogenic Recessive dystrophic epidermolysis bullosa 2022-03-14 criteria provided, single submitter clinical testing
GeneDx RCV001956456 SCV005325703 pathogenic not provided 2023-12-13 criteria provided, single submitter clinical testing 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 (gnomAD); This variant is associated with the following publications: (PMID: 22209565, 34435747, 35979658)

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