ClinVar Miner

Submissions for variant NM_017672.6(TRPM7):c.4445C>T (p.Thr1482Ile)

gnomAD frequency: 0.07196  dbSNP: rs8042919
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University RCV001095429 SCV001251011 uncertain significance Juvenile amyotrophic lateral sclerosis 2020-03-31 criteria provided, single submitter research
GeneDx RCV001723538 SCV001950700 benign not provided 2018-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16051700, 25681989, 29874175, 32579787)
PreventionGenetics, part of Exact Sciences RCV003964793 SCV004793239 benign TRPM7-related condition 2019-11-18 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
OMIM RCV000005076 SCV000025252 risk factor Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to 2010-01-05 no assertion criteria provided literature only

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