ClinVar Miner

Submissions for variant NM_138773.4(SLC25A46):c.985G>A (p.Val329Ile)

gnomAD frequency: 0.00002  dbSNP: rs750717175
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047159 SCV001211096 uncertain significance Neuropathy, hereditary motor and sensory, type 6B 2022-05-20 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. ClinVar contains an entry for this variant (Variation ID: 844337). This variant has not been reported in the literature in individuals affected with SLC25A46-related conditions. This variant is present in population databases (rs750717175, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 329 of the SLC25A46 protein (p.Val329Ile).

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