Submissions for variant NM_000494.4(COL17A1):c.3922del (p.Ser1308fs)

dbSNP: rs1064793760

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000482695	SCV000566965	pathogenic	not provided	2015-07-10	criteria provided, single submitter	clinical testing	The c.3922delA deletion in the COL17A1 gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. The c.3922delA deletion is predicted tocause loss of normal protein function either through protein truncation or nonsense-mediated mRNAdecay. The c.3922delA variant was not observed in approximately 6500 individuals of European andAfrican American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benignvariant in these populations. We interpret c.3922delA as a pathogenic variant.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV003989535	SCV004806747	likely pathogenic	Epidermolysis bullosa, junctional 4, intermediate	2024-03-26	criteria provided, single submitter	clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	RCV000625554	SCV000746050	pathogenic	Junctional epidermolysis bullosa, non-Herlitz type	2017-09-18	no assertion criteria provided	clinical testing