ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.845_847del (p.Glu282del)

dbSNP: rs2042257518
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001065385 SCV001230341 uncertain significance Dilated cardiomyopathy 1KK 2019-02-12 criteria provided, single submitter clinical testing This variant, c.845_847del, results in the deletion of 1 amino acid(s) of the MYPN protein (p.Glu282del), but otherwise preserves the integrity of the reading frame. 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with MYPN-related conditions. This variant is not present in population databases (ExAC no frequency).

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