ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.443C>A (p.Thr148Asn) (rs1564341846)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Cell Biology and Neurobiology,Charite - Universitaetsmedizin Berlin RCV000761585 SCV000808994 pathogenic Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 2018-09-20 criteria provided, single submitter clinical testing We revealed a compound heterozygous missense mutation of POMT1 in exon 3 :c.226G>C (p.G76R), which is described before and in exon 6 c.443C>A (Thr148Asn), which is not described before. Both suffer from MDDGB1, a known phenotype associated with this gene. The family has another healthy daughter.

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