ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.5314C>T (p.Arg1772Trp) (rs1032335328)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778703 SCV000915056 likely pathogenic Dystrophic epidermolysis bullosa 2018-10-31 criteria provided, single submitter clinical testing The COL7A1 c.5314C>T (p.Arg1772Trp) variant is a missense variant that has been reported in three studies and identified in six individuals with dystrophic epidermolysis bullosa, including in a homozygous state in five individuals and in a compound heterozygous state with a frameshift variant in one individual (Whittock et al. 1999; Takeichi et al. 2013; Shah et al. 2017). The five homozygotes comprised two sets of siblings from consanguineous families (Takeichi et al. 2013; Shah et al. 2017). The p.Arg1772Trp variant was absent from 195 controls and is reported at a frequency of 0.000032 in the South Asian population of the Genome Aggregation Database. This frequency is based on one allele in a region of good sequencing coverage; therefore, the variant is presumed to be rare. Based on the evidence, the p.Arg1772Trp variant is classified as likely pathogenic for dystrophic epidermolysis bullosa. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
University of Washington Center for Mendelian Genomics, University of Washington RCV000778703 SCV001479769 likely pathogenic Dystrophic epidermolysis bullosa no assertion criteria provided research

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