ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.273+1G>A (rs794728106)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181270 SCV000233559 pathogenic not provided 2019-01-02 criteria provided, single submitter clinical testing Although the c.273+1 G>A pathogenic variant in the DSP gene has not been reported as pathogenic or benign to our knowledge, it has been identified in at least two unrelated individuals diagnosed with ARVC/D who were referred for genetic testing at GeneDx. This variant destroys the canonical splice donor site in intron 2 and is predicted to cause abnormal gene splicing. This variant is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Other downstream splice site variants in the DSP gene have been reported in HGMD in association with cardiomyopathy (Stenson et al., 2014). Furthermore, the c.273+1 G>A variant is not observed in large population cohorts (Lek et al., 2016).In summary, c.273+1 G>A in the DSP gene is interpreted as a pathogenic variant.

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