ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.18974T>C (p.Leu6325Pro)

gnomAD frequency: 0.00006  dbSNP: rs201361687
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726119 SCV000342140 uncertain significance not provided 2017-11-30 criteria provided, single submitter clinical testing
GeneDx RCV000726119 SCV000622032 uncertain significance not provided 2017-10-26 criteria provided, single submitter clinical testing The L6254P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The L6254P variant is observed in 22/126,704 (0.02%) alleles from individuals of European background (Lek et al., 2016). This substitution occurs at a position where amino acids with similar properties to Leucine are tolerated across species. However, this variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function.
Institute of Human Genetics, University Hospital Muenster RCV002275007 SCV002562226 uncertain significance See cases 2022-08-12 criteria provided, single submitter clinical testing ACMG categories: PM2,BP4
Revvity Omics, Revvity Omics RCV000726119 SCV003825280 uncertain significance not provided 2023-07-20 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252115 SCV001427864 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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