ClinVar Miner

Submissions for variant NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) (rs119482084)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000216582 SCV000279173 likely benign not specified 2018-01-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000005069 SCV000626927 likely benign Hereditary sensory and autonomic neuropathy type 1 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV001249812 SCV001137821 likely benign Neuropathy, hereditary sensory and autonomic, type 1A 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001249812 SCV001158141 likely benign Neuropathy, hereditary sensory and autonomic, type 1A 2020-02-03 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV000789583 SCV001337208 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
OMIM RCV000005069 SCV000025245 uncertain significance Hereditary sensory and autonomic neuropathy type 1 2009-04-01 no assertion criteria provided literature only
GeneReviews RCV001249812 SCV000058071 pathologic Neuropathy, hereditary sensory and autonomic, type 1A 2013-03-07 no assertion criteria provided curation Converted during submission to Pathogenic.
Inherited Neuropathy Consortium RCV000789583 SCV000928939 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.