ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1955G>A (p.Gly652Asp)

gnomAD frequency: 0.00013  dbSNP: rs372209528
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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 RCV000791869 SCV000931136 likely benign Developmental and epileptic encephalopathy, 36 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001585710 SCV001813106 uncertain significance not provided 2021-01-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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