ClinVar Miner

Submissions for variant NM_000494.4(COL17A1):c.3579G>A (p.Trp1193Ter)

dbSNP: rs1237394833
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814335 SCV001755120 likely pathogenic Abnormality of the skin 2021-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003558836 SCV004295717 pathogenic not provided 2023-05-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1180606). This premature translational stop signal has been observed in individual(s) with autosomal recessive epidermolysis bullosa (PMID: 28830826, 33393081). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp1193*) in the COL17A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL17A1 are known to be pathogenic (PMID: 16473856, 17344927, 20301304, 21357940, 24319098).

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