ClinVar Miner

Submissions for variant NM_138773.4(SLC25A46):c.598G>A (p.Gly200Arg)

gnomAD frequency: 0.00003  dbSNP: rs767725140
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687866 SCV000815457 uncertain significance Neuropathy, hereditary motor and sensory, type 6B 2022-07-24 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 200 of the SLC25A46 protein (p.Gly200Arg). This variant is present in population databases (rs767725140, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with SLC25A46-related conditions. ClinVar contains an entry for this variant (Variation ID: 567704). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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.
GeneDx RCV002225718 SCV002504609 uncertain significance not provided 2022-04-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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