ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.1325T>C (p.Leu442Pro)

gnomAD frequency: 0.00058  dbSNP: rs375440874
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724389 SCV000225431 uncertain significance not provided 2015-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000724389 SCV000243300 uncertain significance not provided 2013-05-13 criteria provided, single submitter clinical testing p.Leu442Pro (CTG>CCG): c.1325 T>C in exon 11 of the SYN1 gene (NM_133499.2) The Leu442Pro missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. Although both Leucine and Proline are uncharged, non-polar amino acid residues, the gain of a Proline may affect the secondary structure of the synapsin-1 protein. Leu442Pro alters a position that is not well conserved in the protein and to our knowledge, other missense mutations have not been reported in this region of the protein. Several in-silico algorithms predict Leu442Pro may be benign, while another model suggests it may be damaging to the structure/function of the protein. Therefore, based on the currently available information, it is unclear whether Leu442Pro is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).
Invitae RCV001085678 SCV000762487 likely benign Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2024-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381569 SCV002690485 likely benign Inborn genetic diseases 2017-07-27 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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.