ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.895A>G (p.Ser299Gly) (rs876657801)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000221921 SCV000271746 uncertain significance not specified 2016-01-28 criteria provided, single submitter clinical testing The p.Ser299Gly variant in DSP has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. Another disease causing variant at the same position (Arg488C ys) has been reported in individuals with ARVC (Rampazzo 2002, Bauce 2005 and 20 01, Asimaki 2009, Rigato 2013), suggesting that changes at this position are not tolerated. In summary, the clinical significance of the p.Ser299Gly variant is uncertain.

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