ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.394-5T>C

gnomAD frequency: 0.00001  dbSNP: rs1299570489
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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 RCV002317522 SCV000850955 uncertain significance Inborn genetic diseases 2016-03-02 criteria provided, single submitter clinical testing The c.394-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 5 in the ALDH7A1 gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002533051 SCV003281621 likely benign Pyridoxine-dependent epilepsy 2023-07-09 criteria provided, single submitter clinical testing

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