ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3788_3789dup (p.Thr1264fs) (rs1554108170)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599270 SCV000710246 likely pathogenic not provided 2017-12-22 criteria provided, single submitter clinical testing Although the c.3788_3789dupCC likely pathogenic variant in the DSP gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon threonine 1264, changing it to a proline, and creating a premature stop codon at position 22 of the new reading frame, denoted p.Thr1264ProfsX22. This likely pathogenic variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in the DSP gene have been reported in Human Gene Mutation Database in association with DSP-related disorders (Stenson et al., 2014), indicating that loss of function is a mechanism of disease for this gene. Furthermore, the c.3788_3789dupCC variant has not been observed in large population cohorts (Lek et al., 2016).

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