ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.208_210del (p.Arg70del)

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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 RCV002608155 SCV002941600 uncertain significance Glycogen storage disease, type V 2022-08-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PYGM-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts a region of the PYGM protein in which other variant(s) (p.Arg70Cys) have been observed in individuals with PYGM-related conditions (PMID: 29143597). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is not present in population databases (gnomAD no frequency). This variant, c.208_210del, results in the deletion of 1 amino acid(s) of the PYGM protein (p.Arg70del), but otherwise preserves the integrity of the reading frame.

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