ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1044+3A>G (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 RCV000480870 SCV000565851 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing The c.1044+3 A>G variant of uncertain significance in the DSP gene not been published as a pathogenic or benign variant to our knowledge. This variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project or with any significant frequency in the Exome Aggregation Consortium, indicating it is not a common benign variant in these populations. Nevertheless, this substitution occurs at a position that is not conserved across species, and Guanine is tolerated at position c.1044+3 in at least nine species. Furthermore, splice site prediction algorithms are inconclusive as to whether or not this variant causes abnormal gene splicing. In the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or benign

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