ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.247-1G>C

dbSNP: rs1060502949
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468096 SCV000551315 likely pathogenic Pyridoxine-dependent epilepsy 2016-07-04 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 2 of the ALDH7A1 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a ALDH7A1-related disease. In summary, donor and acceptor splice site variants are typically truncating (PMID: 16199547), and truncating variants in ALDH7A1 are known to be pathogenic (PMID: 16491085). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.
Ambry Genetics RCV001266223 SCV001444395 likely pathogenic Inborn genetic diseases 2018-02-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000468096 SCV004050276 likely pathogenic Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing

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