ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.960C>T (p.Phe320=)

gnomAD frequency: 0.00014  dbSNP: rs114516357
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698221 SCV000531399 likely benign not provided 2020-12-29 criteria provided, single submitter clinical testing
Invitae RCV000532418 SCV000640333 likely benign Pyridoxine-dependent epilepsy 2024-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379361 SCV002695704 likely benign Inborn genetic diseases 2019-10-23 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.
Genome-Nilou Lab RCV000532418 SCV004049024 likely benign Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing

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