ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3049_3050dup (p.Leu1017fs) (rs794728157)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181392 SCV000233694 likely pathogenic not provided 2016-08-10 criteria provided, single submitter clinical testing Although the c.3049_3050dupTT 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 Leucine 1017, changing it to a Phenylalanine, and creating a premature stop codon at position 2 of the new reading frame, denoted p.Leu1017PhefsX2. This 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 downstream frameshift variants in the DSP gene have been reported in HGMD in association with cardiomyopathy (Stenson et al., 2014). Furthermore, c.3049_3050dupTTwas not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In summary, c.3049_3050dupTT in the DSP gene is expected to be pathogenic, as loss of function variants in this gene are strongly associated with this phenotype.

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