ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1292dup (p.Tyr431Ter) (rs786204293)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181361 SCV000233662 not provided not provided no assertion provided clinical testing The c.1292dupA variant in DSP replaces the normal Tyrosine 431 codon with a premature stop codon. Although this change has not been reported previously as a pathogenic variant, it is expected to result in an abnormal, truncated protein or in absence of protein from this allele due to mRNA decay.

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