ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1911_1912delinsGT (p.Arg638Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003781331 SCV004573246 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 2023-10-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg638*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with Walker-Warburg syndrome (WWS) and/or muscular dystrophy (PMID: 15894594, 33124102). ClinVar contains an entry for this variant (Variation ID: 3218). For these reasons, this variant has been classified as Pathogenic.

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