ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.849C>T (p.Gly283=)

gnomAD frequency: 0.00187  dbSNP: rs146030265
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188047 SCV000241650 likely benign not provided 2021-05-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV001080362 SCV000652158 benign Lipoic acid synthetase deficiency 2025-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917714 SCV004733216 likely benign LIAS-related disorder 2024-04-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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