ClinVar Miner

Submissions for variant NC_000017.10:g.(?_78085283)_(78092476_?)del

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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 RCV003119428 SCV003790752 pathogenic Glycogen storage disease, type II 2021-12-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GAA protein in which other variant(s) (p.Leu552Pro) have been determined to be pathogenic (PMID: 14695532, 17616415, 18607768, 19588081, 20638881, 24158270, 25681614, 27666774). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 369943). This variant has not been reported in the literature in individuals affected with GAA-related conditions. This variant results in the deletion of exons 12-18 and part of exon 19 (c.1636+460_2672del) of the GAA gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GAA are known to be pathogenic (PMID: 18425781, 22252923).

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