ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1287T>C (p.Phe429=)

gnomAD frequency: 0.00010  dbSNP: rs375030056
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123624 SCV000166963 benign not specified 2013-11-27 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.
Invitae RCV000862820 SCV001003375 likely benign Pyridoxine-dependent epilepsy 2024-01-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000862820 SCV004050579 benign Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915233 SCV004730034 likely benign ALDH7A1-related condition 2021-03-04 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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