ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1743C>T (p.Ile581=)

dbSNP: rs527970795
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631101 SCV000752095 likely benign Glycogen storage disease, type II 2024-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003302985 SCV003989441 uncertain significance Cardiovascular phenotype 2023-04-03 criteria provided, single submitter clinical testing The c.1743C>T variant (also known as p.I581I), located in coding exon 11 of the GAA gene, results from a C to T substitution at nucleotide position 1743. This nucleotide substitution does not change the isoleucine at codon 581. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003918005 SCV004735417 likely benign GAA-related condition 2020-11-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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