ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.785G>A (p.Trp262Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155780 SCV003844799 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy 2023-02-15 criteria provided, single submitter clinical testing Variant summary: POMT2 c.785G>A (p.Trp262X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position are cited as pathogenic and disease-associated in ClinVar and HGMD. The variant was absent in 251476 control chromosomes. To our knowledge, no occurrence of c.785G>A in individuals affected with Limb-Girdle Muscular Dystrophy, Autosomal Recessive and no experimental evidence demonstrating its impact on protein function have been reported. However, another variant (c.786G>A) also resulting in p.Trp262X was observed in a patient with Limb Girdle Muscular Dystrophy (Saredi_2014). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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