ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1044+3A>C (rs765089914)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498295 SCV000590397 uncertain significance not provided 2017-06-05 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DSP gene. The c.1044+3 A>C variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is predicted to lead to loss of the splice donor site in intron 8 and may cause abnormal gene splicing. However, only one other non-canonical splice site variant in the DSP gene has been reported in HGMD in association with cardiomyopathy (Stenson et al., 2014). In the absence of functional mRNA studies, the physiological consequence of the c.1044+3 A>C variant cannot be precisely determined. Furthermore, adenine (A) at this nucleotide position is not conserved across species.

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