ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.1358C>T (p.Pro453Leu)

gnomAD frequency: 0.00007  dbSNP: rs753599819
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001038283 SCV001201747 uncertain significance Myopathy, centronuclear, 2 2024-11-22 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 453 of the BIN1 protein (p.Pro453Leu). This variant is present in population databases (rs753599819, gnomAD 0.03%). 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: 837032). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
GeneDx RCV001577220 SCV001804562 uncertain significance not provided 2020-10-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001038283 SCV003829874 uncertain significance Myopathy, centronuclear, 2 2020-01-28 criteria provided, single submitter clinical testing

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