ClinVar Miner

Submissions for variant NM_020117.11(LARS1):c.1501G>A (p.Ala501Thr)

gnomAD frequency: 0.00018  dbSNP: rs139960441
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001844712 SCV002103945 uncertain significance not specified 2022-02-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003738109 SCV004552241 likely benign not provided 2023-12-19 criteria provided, single submitter clinical testing
GeneDx RCV003738109 SCV005848263 uncertain significance not provided 2024-08-14 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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