ClinVar Miner

Submissions for variant NM_033087.4(ALG2):c.167C>T (p.Pro56Leu)

gnomAD frequency: 0.00033  dbSNP: rs201959100
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428835 SCV000522916 benign not specified 2016-12-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000538249 SCV000639593 benign ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 2024-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000538249 SCV002802523 likely benign ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 2022-03-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480628 SCV004225059 uncertain significance not provided 2023-06-22 criteria provided, single submitter clinical testing BS1

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