Submissions for variant NM_017739.3(POMGNT1):c.1738C>T (p.Arg580Ter) (rs386834018)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000049999	SCV000220156	likely pathogenic	Muscle eye brain disease	2014-03-12	criteria provided, single submitter	literature only
Invitae	RCV000818740	SCV000959370	pathogenic	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3	2019-12-27	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg580*) in the POMGNT1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs386834018, ExAC 0.002%). This variant has been observed in combination with another POMGNT1 variant in individuals affected with muscular dystrophy-dystroglycanopathy (PMID: 17906881, 19067344). ClinVar contains an entry for this variant (Variation ID: 56586). Loss-of-function variants in POMGNT1 are known to be pathogenic (PMID: 19299310). For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	RCV000049999	SCV000082408	probable-pathogenic	Muscle eye brain disease		no assertion criteria provided	not provided	Converted during submission to Likely pathogenic.