ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1350_1351insTTA (p.Pro450_Arg451insLeu)

dbSNP: rs1581802595
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000822671 SCV000963481 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2019-08-21 criteria provided, single submitter clinical testing This variant, c.1350_1351insTTA, results in the insertion of 1 amino acid(s) to the DSP protein (p.Pro450_Arg451insLeu), but otherwise preserves the integrity of the reading frame. 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256833 SCV001433317 uncertain significance not provided 2019-11-13 criteria provided, single submitter clinical testing

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