ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.264G>A (p.Trp88Ter)

dbSNP: rs1945827957
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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 RCV001228965 SCV001401395 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2024-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp88*) in the POMT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POMT1 are known to be pathogenic (PMID: 12369018, 15637732, 16575835). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with POMT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 956205). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004570568 SCV005052408 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2024-03-29 criteria provided, single submitter clinical testing

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