ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.1303C>A (p.Pro435Thr)

dbSNP: rs1240564481
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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 RCV001248597 SCV001422096 uncertain significance Myopathy, centronuclear, 2 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 435 of the BIN1 protein (p.Pro435Thr). The proline residue is moderately conserved and there is a small physicochemical difference between proline and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BIN1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.

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