ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.677T>C (p.Leu226Pro) (rs1554774207)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512688 SCV000609353 uncertain significance not provided 2019-12-01 criteria provided, single submitter clinical testing
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV001089980 SCV001245034 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 2018-12-16 criteria provided, single submitter clinical testing A heterozygous missense variant, NM_007171.3(POMT1):c.677T>C, has been identified in exon 8 of 20 of the POMT1 gene. This variant is predicted to result in an amino acid change of leucione to proline at position 226 of the protien, NP_009102.3(POMT1)p.(Leu226Pro). In silico predictions for this variant are consistently pathogenic (Polyphen, SIFT, CADD, Mutation Taster). The variant is absent in population databases (gnomAD, dbSNP, 1000G). The variant has been previously described with uncertain pathogenicity (ClinVar). Analysis of parental samples indicated this variant was paternally inherited. Based on the information available at the time of curation, this variant has been classified as a VARIANT of UNCERTAIN SIGNIFICANCE (VUS).

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