ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.884-5T>A

gnomAD frequency: 0.00001  dbSNP: rs374449188
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001434122 SCV001636924 likely benign Lipoic acid synthetase deficiency 2018-04-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002542303 SCV003559781 uncertain significance Inborn genetic diseases 2021-07-08 criteria provided, single submitter clinical testing The c.884-5T>A intronic alteration consists of a T to A substitution 5 nucleotides before coding exon 9 in the LIAS gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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