ClinVar Miner

Submissions for variant NM_001080483.3(MYMK):c.305T>C (p.Leu102Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV001089958 SCV001244965 likely pathogenic Congenital nonprogressive myopathy with Moebius and Robin sequences 2018-03-11 criteria provided, single submitter clinical testing A heterozygous missense variant NM_001080483.2(MYMK):c.305T>C, has been identified in exon 3 of 5 of the MYMK (TMEM8C) gene. The variant is predicted to result in a moderate amino acid change from leucine to proline at position 102 of the protein (NM_001080483.2(MYMK):p.(Leu102Pro)). The leucine residue at this position has very high conservation (100 vertebrates, UCSC), but is not located within a well established functional domain. In-silico predictions for this variant are consistently pathogenic (Polyphen, SIFT, CADD, Mutation Taster). The variant is absent in population databases (gnomAD, dbSNP, 1000G). This variant has not been previously reported in clinical cases. Analysis of parental samples indicated this variant was maternally inherited. Based on the information available at the time of reporting, this variant has been classified as LIKELY PATHOGENIC.

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