ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.924-2A>G

dbSNP: rs886044256
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000352653 SCV000344176 pathogenic not provided 2016-08-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001230047 SCV001402515 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 2019-07-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in POMT2 are known to be pathogenic (PMID: 15894594). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 17559086). Disruption of this splice site has been observed in several individuals affected with muscular dystrophy-dystroglycanopathy (PMID: 17559086, 18752264, 26495167). ClinVar contains an entry for this variant (Variation ID: 289765). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 7 of the POMT2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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