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

gnomAD frequency: 0.00001  dbSNP: rs483352725

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	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.