ClinVar Miner

Submissions for variant NM_138773.4(SLC25A46):c.203C>G (p.Thr68Ser)

dbSNP: rs763466158
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231791 SCV001404323 uncertain significance Neuropathy, hereditary motor and sensory, type 6B 2022-09-29 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 68 of the SLC25A46 protein (p.Thr68Ser). This variant is not present in population databases (gnomAD no frequency). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 958595). This variant has not been reported in the literature in individuals affected with SLC25A46-related conditions.

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