ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.31A>T (p.Thr11Ser)

gnomAD frequency: 0.00014  dbSNP: rs147516123
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000650027 SCV000771864 likely benign Lipoic acid synthetase deficiency 2023-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020275 SCV004899154 uncertain significance Inborn genetic diseases 2021-03-24 criteria provided, single submitter clinical testing The c.31A>T (p.T11S) alteration is located in exon 1 (coding exon 1) of the LIAS gene. This alteration results from a A to T substitution at nucleotide position 31, causing the threonine (T) at amino acid position 11 to be replaced by a serine (S). This alteration was detected in an individual with epilepsy; however, no additional phenotypic information was provided (Darbro, 2016). The p.T11S alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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