Submissions for variant NM_000094.4(COL7A1):c.2441-6G>A

dbSNP: rs2531261501

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Neuberg Centre For Genomic Medicine, NCGM	RCV003338163	SCV004047141	uncertain significance	Recessive dystrophic epidermolysis bullosa		criteria provided, single submitter	clinical testing	The c.2441-6G>A splice region variant in COL7A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2441-6G>A variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. In silico splice tools are conflicting in their predictions. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).
Neuberg Centre For Genomic Medicine, NCGM	RCV004786925	SCV005400959	uncertain significance	Epidermolysis bullosa pruriginosa	2023-06-22	criteria provided, single submitter	clinical testing	The observed splice region variant c.2441-6G>A in the COL7A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. This variant has been reported to the ClinVar database as Uncertain Significance. However, no details are available for independent assessment. This splice region variant in intron 19 affects the position six nucleotides upstream of exon 20. The variant is predicted to be damaging by SpliceAI prediction tool. For these reasons, this variant has been classified as Uncertain Significance (VUS).