ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.1297C>T (p.His433Tyr)

gnomAD frequency: 0.00038  dbSNP: rs41298474
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189653 SCV000243299 uncertain significance not provided 2015-01-14 criteria provided, single submitter clinical testing p.His433Tyr (CAT>TAT): c.1297 C>T in exon 10 of the SYN1 gene (NM_133499.2) A variant of unknown significance has been identified in the SYN1 gene. The H433Y missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The H433Y variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. However, multiple in silico algorithms predict it is non-pathogenic. Therefore, based on the currently available information, it is unclear whether H433Y is a disease-causing mutation or a rare benign variant. The variant is found in CHILD-EPI, EPILEPSY panel(s).
Invitae RCV000558124 SCV000639937 benign Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2024-01-29 criteria provided, single submitter clinical testing
NeuroMeGen, Hospital Clinico Santiago de Compostela RCV000558124 SCV000693799 likely pathogenic Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2018-01-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000189653 SCV001156016 likely benign not provided 2018-10-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927752 SCV004740578 likely benign SYN1-related condition 2022-02-22 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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