ClinVar Miner

Submissions for variant NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile)

gnomAD frequency: 0.10214  dbSNP: rs2275272
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243312 SCV000309226 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000346020 SCV000366298 benign ALDH18A1-related de Barsy syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000243312 SCV000525720 benign not specified 2016-10-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV003765523 SCV001716790 benign Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9; de Barsy syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549098 SCV001769183 benign Cutis laxa, autosomal dominant 3 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000346020 SCV001769184 benign ALDH18A1-related de Barsy syndrome 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549099 SCV001769185 benign Hereditary spastic paraplegia 9A 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549100 SCV001769186 benign Autosomal recessive complex spastic paraplegia type 9B 2021-07-14 criteria provided, single submitter clinical testing

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