ClinVar Miner

Submissions for variant NM_006517.5(SLC16A2):c.949C>T (p.Arg317Cys)

gnomAD frequency: 0.00156  dbSNP: rs144755294
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194893 SCV000248890 uncertain significance not specified 2014-10-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315501 SCV000849344 benign Inborn genetic diseases 2018-09-29 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV002517136 SCV001004213 likely benign Spastic paraplegia 2023-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000863531 SCV001860403 benign not provided 2021-04-06 criteria provided, single submitter clinical testing

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