Submissions for variant NM_001077365.2(POMT1):c.280+1G>T

gnomAD frequency: 0.00001  dbSNP: rs746823238

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	RCV000853233	SCV000996296	pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1		criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV000853233	SCV001369949	pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	2020-01-27	criteria provided, single submitter	clinical testing	This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3.
Baylor Genetics	RCV000853233	SCV001521029	pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	2024-02-28	criteria provided, single submitter	clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV001683668	SCV001905652	pathogenic	not provided	2021-09-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001869305	SCV002136342	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy	2024-01-09	criteria provided, single submitter	clinical testing	This sequence change affects a donor splice site in intron 4 of the POMT1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is present in population databases (rs746823238, gnomAD 0.0009%). Disruption of this splice site has been observed in individual(s) with Walker-Warburg syndrome (PMID: 18752264, 20065251). This variant is also known as p.del77-93. ClinVar contains an entry for this variant (Variation ID: 691982). Studies have shown that disruption of this splice site results in skipping of exon 4, but is expected to preserve the integrity of the reading-frame (PMID: 20065251). For these reasons, this variant has been classified as Pathogenic.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000853233	SCV004806002	pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	2024-03-25	criteria provided, single submitter	clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	RCV000853233	SCV004847199	pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	2023-08-28	criteria provided, single submitter	clinical testing