ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile) (rs138599871)

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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 RCV000609863 SCV000710901 uncertain significance not specified 2017-08-23 criteria provided, single submitter clinical testing The p.Thr1319Ile variant in DSP has been reported in 1 individual with HCM, thou gh this individual carried a pathogenic MYBPC3 variant that is likely responsibl e for their disease (Bottillo 2016). This variant has been identified in 4/11121 0 of European chromosomes by the Genome Aggregation Database (gnomAD, http://gno; dbSNP rs138599871). Computational prediction tools and c onservation analysis do not provide strong support for or against an impact to t he protein. In summary, the clinical significance of the p.Thr1319Ile variant is uncertain.

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