ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.1189G>A (p.Ala397Thr)

dbSNP: rs1594821331
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Care4Rare-SOLVE, CHEO RCV000855533 SCV000998544 uncertain significance Charcot-Marie-Tooth disease axonal type 2U 2019-10-31 criteria provided, single submitter research
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173426 SCV001336514 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV003128719 SCV003805951 uncertain significance not provided 2022-08-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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: 28708278, 32376792, 33827397, 33236345, 31356216)

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