ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1812del (p.Arg605fs)

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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 RCV003041930 SCV003317744 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2022-09-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with POMGNT1-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the POMGNT1 protein in which other variant(s) (p.Arg605His) have been determined to be pathogenic (PMID: 12849864, 21361872). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg605Valfs*29) in the POMGNT1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 56 amino acid(s) of the POMGNT1 protein.

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