ClinVar Miner

Submissions for variant NM_005530.3(IDH3A):c.938T>C (p.Met313Thr)

gnomAD frequency: 0.00018  dbSNP: rs149862950
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001498042 SCV001702783 likely benign not provided 2024-12-16 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001003051 SCV001950284 likely pathogenic Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation 0
GeneDx RCV001498042 SCV001986212 uncertain significance not provided 2021-03-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30478029, 31456290, 28412069)
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003051 SCV001161108 pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research
OMIM RCV001255142 SCV001431245 pathogenic Retinitis pigmentosa 90 2020-09-02 no assertion criteria provided literature only

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