ClinVar Miner

Submissions for variant NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr)

gnomAD frequency: 0.01418  dbSNP: rs3765571
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000677324 SCV000366293 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 RCV000442277 SCV000525843 benign not specified 2016-12-08 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003765781 SCV000638201 benign Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9; de Barsy syndrome 2024-02-01 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000677324 SCV000803546 benign ALDH18A1-related de Barsy syndrome 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign, for Cutis laxa, autosomal recessive, type IIIa, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848079 SCV002106136 benign Hereditary spastic paraplegia 2021-04-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502200 SCV002810194 benign ALDH18A1-related de Barsy syndrome; Hereditary spastic paraplegia 9A; Autosomal recessive complex spastic paraplegia type 9B; Cutis laxa, autosomal dominant 3 2021-08-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718360 SCV005324095 benign not provided criteria provided, single submitter not provided

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