Submissions for variant NM_004643.3(PABPN1):c.3GGC[11] (p.Ala11_Gly12insAlaAlaAlaAla)

dbSNP: rs193922941

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000599541	SCV000709829	pathogenic	not provided	2018-10-19	criteria provided, single submitter	clinical testing	This individual harbors one expanded allele of 14 Alanine repeats and one normal allele of 10 Alanine repeats. This repeat expansion in the PABPN1 gene has been reported previously in multiple individuals with oculopharyngeal muscular dystrophy (OPMD) (Brais et al., 1998; Robinson et al., 2005). The finding of an expanded allele in the PABPN1 gene is consistent with a diagnosis of oculopharyngeal muscular dystrophy.
Mendelics	RCV000989180	SCV001139401	pathogenic	Oculopharyngeal muscular dystrophy	2019-05-28	criteria provided, single submitter	clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	RCV000989180	SCV001150194	pathogenic	Oculopharyngeal muscular dystrophy	2019-06-07	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000989180	SCV002020615	pathogenic	Oculopharyngeal muscular dystrophy	2023-08-08	criteria provided, single submitter	clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV004719897	SCV005326483	pathogenic	Oculopharyngeal muscular dystrophy 1	2024-09-20	criteria provided, single submitter	clinical testing