ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.607T>G (p.Trp203Gly)

gnomAD frequency: 0.00001  dbSNP: rs555896752
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186727 SCV000240294 pathogenic not provided 2020-09-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22784480, 26943461, 26224730, 20554659, 31302938, 32751059, 31589614)
Revvity Omics, Revvity RCV001785493 SCV002021339 likely pathogenic Pyridoxine-dependent epilepsy 2019-01-16 criteria provided, single submitter clinical testing
Invitae RCV001785493 SCV002211876 uncertain significance Pyridoxine-dependent epilepsy 2022-05-16 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 203 of the ALDH7A1 protein (p.Trp203Gly). This variant is present in population databases (rs555896752, gnomAD 0.004%). This missense change has been observed in individual(s) with pyridoxine-dependent epilepsy (PMID: 20554659). This variant is also known as p.Trp175Gly. ClinVar contains an entry for this variant (Variation ID: 204831). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ALDH7A1 protein function. Experimental studies have shown that this missense change affects ALDH7A1 function (PMID: 22784480, 31302938). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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