ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2865_2869CAATT[1] (p.Asn956_Ser957insTer) (rs794728139)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181362 SCV000233663 pathogenic not provided 2015-04-02 criteria provided, single submitter clinical testing Although the c.2870_2874delCAATT mutation in the DSP gene has not been reported to our knowledge. This mutation causes a premature Stop codon at position 957, denoted p.Ser957Stop. This mutation 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 mutations in the DSP gene have been reported in association with cardiomyopathy. In summary, c.2870_2874delCAATT in the DSP gene is interpreted as a disease-causing mutation.

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