ClinVar Miner

Submissions for variant NM_003705.5(SLC25A12):c.1417C>T (p.Arg473Trp)

gnomAD frequency: 0.00001  dbSNP: rs483352725
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000087208 SCV004518443 uncertain significance not provided 2023-08-27 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SLC25A12 protein function. ClinVar contains an entry for this variant (Variation ID: 100846). This variant has not been reported in the literature in individuals affected with SLC25A12-related conditions. This variant is present in population databases (rs483352725, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 473 of the SLC25A12 protein (p.Arg473Trp).
Richard Lifton Laboratory, Yale University School of Medicine RCV000087208 SCV000120070 unknown not provided flagged submission not provided Converted during submission to Uncertain significance.
Richard Lifton Laboratory, Yale University School of Medicine RCV000087208 SCV000155174 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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