ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.678del (p.Trp226fs)

dbSNP: rs755660222
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194245 SCV000248593 pathogenic Muscular dystrophy 2015-03-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765233 SCV004568151 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 2023-09-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp226Cysfs*6) 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). This variant is present in population databases (rs755660222, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with POMT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 211951). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004567396 SCV005052434 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 2024-01-16 criteria provided, single submitter clinical testing

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