ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.1328C>G (p.Ala443Gly)

gnomAD frequency: 0.00003  dbSNP: rs758494519
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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 RCV000688764 SCV000816388 uncertain significance Myopathy, centronuclear, 2 2023-07-29 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 568413). This variant has not been reported in the literature in individuals affected with BIN1-related conditions. This variant is present in population databases (rs758494519, gnomAD 0.004%). This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 443 of the BIN1 protein (p.Ala443Gly).

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