ClinVar Miner

Submissions for variant NM_138773.4(SLC25A46):c.742A>C (p.Ile248Leu) (rs149585060)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493127 SCV000582168 uncertain significance not provided 2017-05-11 criteria provided, single submitter clinical testing The I248L variant in the SLC25A46 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The I248L variant is observed in 61/10404 (0.58%) alleles from individuals of Afrcian background, in the ExAC dataset (Lek et al., 2016). The I248L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Isoleucine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret I248L as a variant of uncertain significance.
Invitae RCV001080440 SCV001015727 likely benign Neuropathy, hereditary motor and sensory, type 6B 2019-12-31 criteria provided, single submitter clinical testing

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