ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.651-5T>C

gnomAD frequency: 0.00001  dbSNP: rs770931075
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315391 SCV000849244 uncertain significance Inborn genetic diseases 2023-04-18 criteria provided, single submitter clinical testing The c.651-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 7 in the ALDH7A1 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003768140 SCV004659246 likely benign Pyridoxine-dependent epilepsy 2023-06-16 criteria provided, single submitter clinical testing

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