ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.2111_2112TC[1] (p.Ser705fs) (rs587777819)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000150016 SCV000196876 pathogenic not provided 2016-06-24 criteria provided, single submitter clinical testing The c.2179_2180delTC pathogenic variant in the POMT1 gene has been reported previously in association with POMT1-related disorders, including Walker-Warburg Syndrome, Muscle-Eye-Brain disease and Fukuyama congenital muscular dystrophy (Godfrey et al., 2007). Homozygosity for this pathogenic variant is consistent with one of these disorders. The deletion causes a frameshift starting with codon Serine 727, changes this amino acid to an Alanine residue, and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Ser727AlafsX3. This pathogenic variant is predicted to cause protein truncation and loss of normal protein function. The variant is found in POMT1 panel(s).
Broad Institute Rare Disease Group,Broad Institute RCV000587199 SCV000693899 pathogenic Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 2017-06-26 criteria provided, single submitter research PVS1: Homozygous frameshift in gene where PTVs known to cause disease for autosomal recessive condition. Previously reported in 2 unrelated individuals (PMID: 17878207). 1 heterozygote in gnomAD.
Pathology and Clinical Laboratory Medicine,King Fahad Medical City RCV000003408 SCV000996295 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 criteria provided, single submitter clinical testing
OMIM RCV000003408 SCV000023566 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 2007-10-01 no assertion criteria provided literature only

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