ClinVar Miner

Submissions for variant NM_033087.4(ALG2):c.1200T>C (p.Pro400=)

gnomAD frequency: 0.00005  dbSNP: rs764916897
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000640600 SCV000762194 likely benign ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 2023-05-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965353 SCV004784073 likely benign ALG2-related disorder 2019-08-16 no assertion criteria provided 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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