Submissions for variant NM_001077365.2(POMT1):c.2113_2114del (p.Ser705fs)

dbSNP: rs587777819

Total submissions: 4

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 Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV000587199	SCV000693899	pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), 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 A1		criteria provided, single submitter	clinical testing
OMIM	RCV000003408	SCV000023566	pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	2007-10-01	no assertion criteria provided	literature only