ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1484T>C (p.Val495Ala) (rs727504518)

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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 RCV000155665 SCV000205374 uncertain significance not specified 2013-11-05 criteria provided, single submitter clinical testing The Val495Ala variant in DSP has not been previously reported in any other famil ies with HCM or in large population studies. Computational analyses (biochemical amino acid properties, AlignGVGD, PolyPhen2, and SIFT) do not provide strong su pport for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of the Val495Ala variant.

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