ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.203C>A (p.Thr68Asn)

gnomAD frequency: 0.00032  dbSNP: rs58528748
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186731 SCV000240298 uncertain significance not provided 2021-05-14 criteria provided, single submitter clinical testing Published functional studies using an E.coli-based expression system suggest that this variant results in decreased expression; however additional studies are needed to validate the functional effect of this variant in vivo (Coughlin et al., 2019); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30043187)
Invitae RCV000641168 SCV000762805 likely benign Pyridoxine-dependent epilepsy 2024-01-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV000641168 SCV001523907 uncertain significance Pyridoxine-dependent epilepsy 2019-07-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
New York Genome Center RCV000641168 SCV001761022 uncertain significance Pyridoxine-dependent epilepsy 2020-06-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415800 SCV002718774 uncertain significance Inborn genetic diseases 2017-11-14 criteria provided, single submitter clinical testing The p.T68N variant (also known as c.203C>A), located in coding exon 2 of the ALDH7A1 gene, results from a C to A substitution at nucleotide position 203. The threonine at codon 68 is replaced by asparagine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000641168 SCV003823153 uncertain significance Pyridoxine-dependent epilepsy 2019-11-21 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678776 SCV000804955 uncertain significance Intractable seizure 2017-02-10 no assertion criteria provided clinical testing

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