ClinVar Miner

Submissions for variant NM_005888.4(SLC25A3):c.279G>T (p.Met93Ile)

gnomAD frequency: 0.00002  dbSNP: rs750003586
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195983 SCV000252273 likely benign not specified 2014-07-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002515434 SCV002963182 uncertain significance not provided 2022-08-07 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 93 of the SLC25A3 protein (p.Met93Ile). This variant is present in population databases (rs750003586, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SLC25A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 215162). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV000195983 SCV004951642 uncertain significance not specified 2023-10-14 criteria provided, single submitter clinical testing The c.279G>T (p.M93I) alteration is located in exon 3 (coding exon 2) of the SLC25A3 gene. This alteration results from a G to T substitution at nucleotide position 279, causing the methionine (M) at amino acid position 93 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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