ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.1480G>A (p.Val494Met)

gnomAD frequency: 0.00016  dbSNP: rs144459969
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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 RCV001294513 SCV001483393 uncertain significance Myopathy, centronuclear, 2 2023-07-07 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. ClinVar contains an entry for this variant (Variation ID: 998626). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BIN1 protein function. This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 494 of the BIN1 protein (p.Val494Met). This variant is present in population databases (rs144459969, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with BIN1-related conditions.

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