ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.1A>G (p.Met1Val) (rs1064797078)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579087 SCV000681207 pathogenic not provided 2017-11-29 criteria provided, single submitter clinical testing The c.1 A>G variant has has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant alters the initiator Methionine codon, and the resultant protein would be described as p.Met1? using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Met. The variant is not observed in large population cohorts (Lek et al., 2016). In summary, we consider this variant to be pathogenic.
Undiagnosed Diseases Network,NIH RCV000487444 SCV000746569 pathogenic Recessive dystrophic epidermolysis bullosa 2018-03-07 criteria provided, single submitter clinical testing
Gansu Province Medical Genetics Center RCV000487444 SCV000574542 pathogenic Recessive dystrophic epidermolysis bullosa no assertion criteria provided clinical testing

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