ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.363del (p.Glu122fs)

dbSNP: rs1553934199
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000650024 SCV000771861 pathogenic Lipoic acid synthetase deficiency 2022-02-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with LIAS-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 540089). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu122Asnfs*11) in the LIAS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LIAS are known to be pathogenic (PMID: 24334290, 27923773).

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