ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1305C>G (p.Val435=)

gnomAD frequency: 0.00010  dbSNP: rs142975776
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444054 SCV000512015 benign not specified 2015-04-23 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 RCV000641173 SCV000762810 likely benign Pyridoxine-dependent epilepsy 2024-01-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310863 SCV001500834 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing ALDH7A1: BP4, BP7
Ambry Genetics RCV002379289 SCV002691329 likely benign Inborn genetic diseases 2017-06-20 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.
Genome-Nilou Lab RCV000641173 SCV004050206 benign Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing

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