ClinVar Miner

Submissions for variant NM_003562.5(SLC25A11):c.828C>A (p.Phe276Leu)

gnomAD frequency: 0.00024  dbSNP: rs147584261
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238473 SCV002010010 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040743 SCV003624641 uncertain significance not specified 2024-11-28 criteria provided, single submitter clinical testing The c.828C>A (p.F276L) alteration is located in exon 8 (coding exon 8) of the SLC25A11 gene. This alteration results from a C to A substitution at nucleotide position 828, causing the phenylalanine (F) at amino acid position 276 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003238473 SCV005729332 uncertain significance not provided 2025-01-11 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 276 of the SLC25A11 protein (p.Phe276Leu). This variant is present in population databases (rs147584261, gnomAD 0.09%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with SLC25A11-related conditions. ClinVar contains an entry for this variant (Variation ID: 1319152). 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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