ClinVar Miner

Submissions for variant NM_013382.5(POMT2):c.1654-8T>G (rs780532724)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000712834 SCV000334836 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
GeneDx RCV000340714 SCV000534217 likely benign not specified 2016-11-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000699063 SCV000827758 uncertain significance Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 2018-03-06 criteria provided, single submitter clinical testing This sequence change falls in intron 15 of the POMT2 gene. It does not directly change the encoded amino acid sequence of the POMT2 protein. This variant is present in population databases (rs780532724, ExAC 0.007%). This variant has not been reported in the literature in individuals with POMT2-related disease. ClinVar contains an entry for this variant (Variation ID: 283033). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Athena Diagnostics Inc RCV000712834 SCV000843369 uncertain significance not provided 2018-01-24 criteria provided, single submitter clinical testing

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