ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.311dup (p.Val105fs) (rs1555985745)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598679 SCV000710207 likely pathogenic not provided 2017-12-15 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the PCDH19 gene. The c.311dupA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.311dupAvariant causes a frameshift starting with codon Valine 105, changes this amino acid to a Glycine residue and creates apremature Stop codon at position 121 of the new reading frame, denoted p.Val105GlyfsX121. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNAdecay. The c.311dupA variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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