ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.1516G>A (p.Val506Met)

gnomAD frequency: 0.00001  dbSNP: rs371571307
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001316596 SCV001507226 uncertain significance Myopathy, centronuclear, 2 2020-02-15 criteria provided, single submitter clinical testing 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. This sequence change replaces valine with methionine at codon 506 of the BIN1 protein (p.Val506Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs371571307, ExAC 0.002%). This variant has not been reported in the literature in individuals with BIN1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain.

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