ClinVar Miner

Submissions for variant NM_006415.4(SPTLC1):c.*12G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV005052283 SCV005685430 uncertain significance Amyotrophic lateral sclerosis 27, juvenile 2024-09-24 criteria provided, single submitter clinical testing The SPTLC1 c.*12G>A variant, reported above as NM_001281303.2:c.1402G>A (p.Gly468Arg) in the non-canonical transcript, to our knowledge, has not been reported in the medical literature. Computational predictors are uncertain as to the impact of this variant on SPTLC1 function. This variant does lie within the 3' UTR which may impact mRNA localization, stability, and translation. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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