ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6295_6296delinsAT (p.Pro2099Ile) (rs587782942)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000143887 SCV000188756 uncertain significance Cardiomyopathy 2014-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621781 SCV000738047 uncertain significance Cardiovascular phenotype 2017-06-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000824533 SCV000965434 uncertain significance Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-10-10 criteria provided, single submitter clinical testing This sequence change replaces proline with isoleucine at codon 2099 of the DSP protein (p.Pro2099Ile). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DSP-related disease. ClinVar contains an entry for this variant (Variation ID: 155788). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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