ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.8530C>T (p.Arg2844Trp) (rs138002006)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519367 SCV000621875 uncertain significance not provided 2017-10-23 criteria provided, single submitter clinical testing The R2844W variant in the COL7A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R2844W variant is observed in 61/23,764 (0.256%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). The R2844W variant is a non-conservative amino acid substitution, which occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R2844W as a variant of uncertain significance.
Invitae RCV000519367 SCV001052901 likely benign not provided 2020-11-23 criteria provided, single submitter clinical testing

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