ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.944G>A (p.Arg315His)

gnomAD frequency: 0.00033  dbSNP: rs145535775
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000712220 SCV000241654 uncertain significance not provided 2025-01-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV000650017 SCV000771854 benign Lipoic acid synthetase deficiency 2024-09-13 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712220 SCV000842658 uncertain significance not provided 2017-09-18 criteria provided, single submitter clinical testing

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