ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.673del (p.Trp225fs)

dbSNP: rs1594796439
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000804444 SCV000944355 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 2021-03-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with POMT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 649496). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp225Glyfs*7) in the POMT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POMT2 are known to be pathogenic (PMID: 15894594).
Baylor Genetics RCV003472378 SCV004204113 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 2023-04-15 criteria provided, single submitter clinical testing

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