ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) (rs150367385)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000194020 SCV000196867 benign not specified 2017-10-30 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000194020 SCV000226493 likely benign not specified 2015-09-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000194020 SCV000248584 likely benign not specified 2015-09-18 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000175066 SCV000280635 likely benign not provided 2016-05-06 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
PreventionGenetics,PreventionGenetics RCV000194020 SCV000311736 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001086216 SCV000649882 likely benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000680152 SCV000807617 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 2017-09-01 criteria provided, single submitter clinical testing This variant has been previously reported as disease-causing and was found once in our laboratory homozygous in a 1-year-old male with global delays, regression, hypotonia, refractory epilepsy, acquired microcephaly, mild optic nerve atrophy, cerebral atrophy, possible cervical stenosis. Heterozygotes would be expected to be asymptomatic carriers.
Mendelics RCV000988264 SCV001137919 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 2019-05-28 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197521 SCV001368299 benign Seizures; Enuresis; Self-injurious behavior; Sleep disturbance; EEG abnormality; Low anterior hairline; Self-mutilation; Menstrual irregularities; Generalized myoclonic seizures; Poor speech; Abnormal synaptic transmission at the neuromuscular junction; Postnatal macrocephaly; Sleep-wake cycle disturbance; Childhood-onset truncal obesity; Intellectual disability, severe; Oppositional defiant disorder 2019-03-26 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2. This variant was detected in heterozygous state.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000175066 SCV001371091 likely benign not provided 2020-05-01 criteria provided, single submitter clinical testing

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.