Submissions for variant NM_003060.4(SLC22A5):c.1043T>A (p.Ile348Lys)

dbSNP: rs150544263

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000490211	SCV000576777	uncertain significance	not specified	2017-04-19	criteria provided, single submitter	clinical testing	The I348K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The I348K variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The I348K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Mayo Clinic Laboratories, Mayo Clinic	RCV004791496	SCV005411868	uncertain significance	not provided	2024-01-10	criteria provided, single submitter	clinical testing	PM2
Natera, Inc.	RCV001276453	SCV001462818	uncertain significance	Renal carnitine transport defect	2020-09-16	no assertion criteria provided	clinical testing