ClinVar Miner

Submissions for variant NM_138773.4(SLC25A46):c.169T>C (p.Trp57Arg)

gnomAD frequency: 0.00002  dbSNP: rs761045034
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000794233 SCV000933627 uncertain significance Neuropathy, hereditary motor and sensory, type 6B 2022-11-08 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. 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. ClinVar contains an entry for this variant (Variation ID: 641076). This variant has not been reported in the literature in individuals affected with SLC25A46-related conditions. This variant is present in population databases (rs761045034, gnomAD 0.01%). This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 57 of the SLC25A46 protein (p.Trp57Arg).
GeneDx RCV001799709 SCV002044008 uncertain significance not provided 2021-06-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)

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