ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.3240A>G (p.Pro1080=)

gnomAD frequency: 0.00005  dbSNP: rs773452673
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311872 SCV000847232 likely benign Inborn genetic diseases 2016-07-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV002060352 SCV002468934 likely benign Developmental and epileptic encephalopathy, 36 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002060352 SCV002812507 likely benign Developmental and epileptic encephalopathy, 36 2021-11-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003431102 SCV004167469 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing ALG13: BP4, BP7, BS2

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