ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.650G>A (p.Arg217Gln)

gnomAD frequency: 0.00001  dbSNP: rs570807277
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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 RCV000700777 SCV000829548 uncertain significance Lipoic acid synthetase deficiency 2021-08-27 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480788 SCV004226982 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing PM2
Athena Diagnostics RCV003480788 SCV005620640 uncertain significance not provided 2024-10-02 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) Polyphen and MutationTaster predict this amino acid change may be damaging to the protein.

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