ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.1240T>G (p.Ser414Ala)

gnomAD frequency: 0.00001  dbSNP: rs777951748
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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 RCV001214403 SCV001386085 uncertain significance Myopathy, centronuclear, 2 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces serine with alanine at codon 414 of the BIN1 protein (p.Ser414Ala). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and alanine. This variant is present in population databases (rs777951748, ExAC 0.05%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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