ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.565C>T (p.Gln189Ter)

gnomAD frequency: 0.00001  dbSNP: rs1486141784
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001383190 SCV001582263 pathogenic not provided 2023-10-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln189*) 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 present in population databases (no rsID available, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with autosomal recessive dystrophic epidermolysis bullosa (PMID: 10504458). ClinVar contains an entry for this variant (Variation ID: 1070885). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002499796 SCV002806062 likely pathogenic Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa; Nonsyndromic congenital nail disorder 8; Generalized dominant dystrophic epidermolysis bullosa 2021-10-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826162 SCV002079313 pathogenic Epidermolysis bullosa dystrophica 2021-04-20 no assertion criteria provided clinical testing

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