ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.1106_1110del (p.Thr369fs)

dbSNP: rs1560674852
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000700186 SCV000828931 uncertain significance Lipoic acid synthetase deficiency 2022-07-04 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the LIAS gene (p.Thr369Argfs*16). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 4 amino acid(s) of the LIAS protein and extend the protein by 11 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LIAS-related conditions. ClinVar contains an entry for this variant (Variation ID: 577432). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
3billion, Medical Genetics RCV000700186 SCV005329028 likely benign Lipoic acid synthetase deficiency 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.
GenomeConnect - Invitae Patient Insights Network RCV000700186 SCV001749332 not provided Lipoic acid synthetase deficiency no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 04-16-2018 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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