ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.3756_3757insA (p.Gly1253fs)

dbSNP: rs2043824248
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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 RCV001043243 SCV001206967 uncertain significance Dilated cardiomyopathy 1KK 2019-03-25 criteria provided, single submitter clinical testing 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. This sequence change results in a premature translational stop signal in the MYPN gene (p.Gly1253Argfs*38). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 68 amino acids of the MYPN protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MYPN-related conditions. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001270079 SCV001448862 uncertain significance MYPN-related myopathy 2019-10-09 criteria provided, single submitter clinical testing

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