ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.371A>G (p.Tyr124Cys)

gnomAD frequency: 0.00035  dbSNP: rs145518377
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001088315 SCV000652521 likely benign Developmental and epileptic encephalopathy, 36 2024-01-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000540509 SCV001150429 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000540509 SCV001870997 uncertain significance not provided 2021-07-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27535533)
Ambry Genetics RCV004975679 SCV005589232 likely benign Inborn genetic diseases 2024-09-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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