ClinVar Miner

Submissions for variant NM_138773.4(SLC25A46):c.371G>A (p.Arg124His)

gnomAD frequency: 0.00001  dbSNP: rs756258729
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662028 SCV000784364 uncertain significance Neuropathy, hereditary motor and sensory, type 6B 2018-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000662028 SCV001199867 uncertain significance Neuropathy, hereditary motor and sensory, type 6B 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 124 of the SLC25A46 protein (p.Arg124His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs756258729, ExAC 0.002%). 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: 548524). 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: "Probably 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.

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