ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.3380G>T (p.Gly1127Val)

dbSNP: rs2495966362
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV003128549 SCV003804581 uncertain significance MYPN-related myopathy criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003128549 SCV004047557 uncertain significance MYPN-related myopathy criteria provided, single submitter clinical testing The missense variant c.3380G>T (p.Gly1127Val) in MYPN gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Thr292Arg variant is novel (not in any individuals) in gnomAD exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid Gly at position 1127 is changed to a Val changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Gly1127Val in MYPN is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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