Submissions for variant NM_013382.7(POMT2):c.1329_1332+5del

dbSNP: rs1566648219

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001377042	SCV001574268	likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N	2020-07-21	criteria provided, single submitter	clinical testing	In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Loss-of-function variants in POMT2 are known to be pathogenic (PMID: 15894594). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with POMT2-related conditions. This variant is not present in population databases (ExAC no frequency). This variant results in the deletion of part of exon 12 (c.1329_1332+5del) of the POMT2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.