ClinVar Miner

Submissions for variant NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=)

gnomAD frequency: 0.00134  dbSNP: rs117709404
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000355509 SCV000366290 benign ALDH18A1-related de Barsy syndrome 2018-01-12 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 RCV001705449 SCV000528957 benign not provided 2018-07-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765778 SCV000638203 benign Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9; de Barsy syndrome 2024-01-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848077 SCV002106170 benign Hereditary spastic paraplegia 2018-08-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480099 SCV002802946 likely benign ALDH18A1-related de Barsy syndrome; Hereditary spastic paraplegia 9A; Autosomal recessive complex spastic paraplegia type 9B; Cutis laxa, autosomal dominant 3 2022-04-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001705449 SCV005324091 benign not provided criteria provided, single submitter not provided

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