ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4455G>C (p.Arg1485Ser) (rs113902911)

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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 RCV000038040 SCV000061706 likely benign not specified 2018-08-16 criteria provided, single submitter clinical testing The p.Arg1485Ser (c.4455G>C) variant in DSP is classified as likely benign becau se another variant (c.4455G>T) resulting in the same amino acid change has been identified in 1.8% (445/23888) of African chromosomes by gnomAD (http://gnomad.b In addition, computational tools suggest that this variant m ay not impact the protein. ACMG/AMP Criteria applied: BP4.

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