ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1874_1882del (p.Ala625_Ser627del)

dbSNP: rs2510381693
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV003238172 SCV003936095 likely pathogenic Glycogen storage disease, type II 2023-07-02 criteria provided, single submitter clinical testing The novel homozygous deletion variant c.1874_1882del (p.Ala625_Ser627del) has been identified in a proband with cardiomegaly, respiratory distress, muscle weakness, hypotonia, feeding difficulties, large protruding tongue, This variant has not been found in gnomAD (aggregated) database.

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