ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.200C>T (p.Thr67Met)

gnomAD frequency: 0.00007  dbSNP: rs543181020
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186730 SCV000240297 uncertain significance not provided 2023-05-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001084645 SCV000640317 likely benign Pyridoxine-dependent epilepsy 2024-01-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001084645 SCV001315792 uncertain significance Pyridoxine-dependent epilepsy 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV002415799 SCV002719570 uncertain significance Inborn genetic diseases 2017-07-18 criteria provided, single submitter clinical testing The p.T67M variant (also known as c.200C>T), located in coding exon 2 of the ALDH7A1 gene, results from a C to T substitution at nucleotide position 200. The threonine at codon 67 is replaced by methionine, an amino acid with similar properties. This amino acid position is highly 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.

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