ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6010G>T (p.Val2004Phe) (rs764692193)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621387 SCV000735648 uncertain significance Cardiovascular phenotype 2016-12-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000546727 SCV000641329 uncertain significance Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-08-07 criteria provided, single submitter clinical testing This sequence change replaces valine with phenylalanine at codon 2004 of the DSP protein (p.Val2004Phe). The valine residue is highly conserved and there is a small physicochemical difference between valine and phenylalanine. This variant is present in population databases (rs764692193, ExAC 0.01%). This variant has not been reported in the literature in individuals with DSP-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825753 SCV000967214 likely benign not specified 2018-06-14 criteria provided, single submitter clinical testing The p.Val2004Phe variant in DSP is classified as likely benign because it has be en identified in 0.06% (14/24022) of African chromosomes by the Genome Aggregati on Database (gnomAD, http://gnomad.broadinstitute.org). ACMG/AMP Criteria applie d: BS1.

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