ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6508C>T (p.Gln2170Ter)

dbSNP: rs1461012195
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001380772 SCV001578931 pathogenic not provided 2020-09-09 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478). This variant has been observed in individual(s) with COL7A1-related conditions (PMID: 16484981). This sequence change creates a premature translational stop signal (p.Gln2170*) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product.
Narges Medical Genetic and Prenatal Diagnosis Lab RCV003328102 SCV004035039 pathogenic Recessive dystrophic epidermolysis bullosa no assertion criteria provided clinical testing

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