ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1175+4_1175+7del (rs1588409344)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001238420 SCV001411228 uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2019-09-25 criteria provided, single submitter clinical testing This sequence change falls in intron 12 of the POMT1 gene. It does not directly change the encoded amino acid sequence of the POMT1 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed homozygous in an individual affected with Walker-Warburg syndrome (PMID: 28556411). This variant is also known as c.1241+3delAGTG in the literature. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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.
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000984963 SCV001132880 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 2019-01-29 no assertion criteria provided clinical testing

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