ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.727-10T>G (rs375327581)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038085 SCV000061751 uncertain significance not specified 2012-05-25 criteria provided, single submitter clinical testing The 727-10T>G variant (DSP) has been identified in 1/7020 European American chro mosomes from a broad population by the NHLBI Exome Sequencing Project (http://ev s.gs.washington.edu/EVS). This variant is located in the 3' splice region. Compu tational tools do not provide strong support for or against an impact to splicin g. Additional studies are needed to fully assess the clinical significance of th e 727-10T>G variant.
GeneDx RCV000766872 SCV000512872 uncertain significance not provided 2017-01-06 criteria provided, single submitter clinical testing The c.727-10 T>G variant of uncertain significance in the DSP gene has not been published as a pathogenic variant or been reported as a benign variant to our knowledge. This variant was not observed with any significant frequency in both the Exome Aggregation Consortium and 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. Although this nucleotide substitution occurs at a position that is not conserved, the c.727-10 T>G variant may result in aberrant gene splicing by reducing the efficiency of the splice acceptor site in intron 5. However, 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. This result cannot be interpreted for diagnosis or used for family member screening at this time.
Invitae RCV000641827 SCV000763477 likely benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-10-09 criteria provided, single submitter clinical testing

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