ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.1319del (p.Glu440fs) (rs1559435706)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000785757 SCV000924301 pathogenic Recessive dystrophic epidermolysis bullosa 2019-06-13 criteria provided, single submitter clinical testing Heterozygous variant c.1319delA (p.Glu440GlyfsTer27) in exon 10 has been observed in COL7A1 gene. The proband is consanguineously married; her two daughters had blisters all over the body and were diagnosed with dystrophica epidermolysis bullosa and expired at an early age. The patient in our clinical analysis was diagnosed with the said variant in an autosomal recessive mode of inheritance. The variant has not been reported in the 1000 genomes and ExAC databases. The in-silico prediction of the variant is possibly damaging by MutationTaster2. In summary, the said variant meets our criteria to be classified as pathogenic based on the mode of inheritance, in silico prediction and allele frequency in population databases.

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