ClinVar Miner

Submissions for variant NM_012208.4(HARS2):c.1439G>T (p.Arg480Leu)

dbSNP: rs200089613
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000221606 SCV000270262 likely benign not specified 2015-07-30 criteria provided, single submitter clinical testing p.Arg480Leu in exon 12 of HARS2: This variant is not expected to have clinical s ignificance because it has been identified in 35/66602 (0.05%) of European chrom osomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org; dbSN P rs200089613).
GeneDx RCV001853412 SCV002107237 uncertain significance not provided 2024-04-23 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 RCV001853412 SCV002355063 benign not provided 2023-07-10 criteria provided, single submitter clinical testing

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