ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1415+13C>T

gnomAD frequency: 0.00004  dbSNP: rs776975478
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002122392 SCV002391459 likely benign Pyridoxine-dependent epilepsy 2024-08-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003403692 SCV004122685 likely benign not specified 2023-10-10 criteria provided, single submitter clinical testing Variant summary: ALDH7A1 c.1415+13C>T alters a non-conserved nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4e-05 in 251070 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in ALDH7A1 causing Pyridoxine-Dependent Epilepsy (4e-05 vs 0.0018), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1415+13C>T in individuals affected with Pyridoxine-Dependent Epilepsy and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.

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