ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.1142C>T (p.Pro381Leu)

gnomAD frequency: 0.00003  dbSNP: rs794727107
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174616 SCV000225939 uncertain significance not provided 2014-12-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765501 SCV000896802 uncertain significance Myopathy, centronuclear, 2 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000174616 SCV001999549 uncertain significance not provided 2019-12-03 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000765501 SCV003486912 uncertain significance Myopathy, centronuclear, 2 2024-11-05 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 381 of the BIN1 protein (p.Pro381Leu). This variant is present in population databases (rs794727107, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with BIN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 194281). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic RCV000174616 SCV004224946 uncertain significance not provided 2022-12-06 criteria provided, single submitter clinical testing BP4
Ambry Genetics RCV004020069 SCV004911926 uncertain significance Inborn genetic diseases 2024-01-09 criteria provided, single submitter clinical testing The c.1142C>T (p.P381L) alteration is located in exon 13 (coding exon 13) of the BIN1 gene. This alteration results from a C to T substitution at nucleotide position 1142, causing the proline (P) at amino acid position 381 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.