ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.774T>G (p.Tyr258Ter) (rs1566876690)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760726 SCV000890618 likely pathogenic not provided 2018-09-11 criteria provided, single submitter clinical testing The Y258X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016). The variant is predicted to cause loss of normal protein function through protein truncation. We consider this variant to be likely pathogenic.

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