ClinVar Miner

Submissions for variant NM_012470.4(TNPO3):c.2441A>G (p.Asp814Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002606537 SCV003504957 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1F 2023-06-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2186304). This variant has not been reported in the literature in individuals affected with TNPO3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 814 of the TNPO3 protein (p.Asp814Gly). 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. 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.
Revvity Omics, Revvity RCV002606537 SCV003827754 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1F 2022-03-08 criteria provided, single submitter clinical testing

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