ClinVar Miner

Submissions for variant NM_001366145.2(TRPM3):c.195A>G (p.Ile65Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004719313 SCV005325178 uncertain significance not provided 2024-02-16 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect: I65M may operate through a gain-of-function mechanism that disrupts cellular osmoregulation (PMID: 38334649); 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; Reported using an alternate transcript of the gene; This variant is associated with the following publications: (PMID: 38334649, 25090642)
OMIM RCV003152306 SCV003840894 pathogenic Cataract 50 with or without glaucoma 2023-08-02 no assertion criteria provided literature only

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