Submissions for variant NM_003060.4(SLC22A5):c.1229G>A (p.Gly410Asp)

gnomAD frequency: 0.00003  dbSNP: rs200125400

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000334950	SCV000342925	uncertain significance	not provided	2016-06-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086123	SCV001092164	likely benign	Renal carnitine transport defect	2024-10-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001086123	SCV002055770	uncertain significance	Renal carnitine transport defect	2021-07-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004021261	SCV004951210	uncertain significance	Inborn genetic diseases	2022-12-01	criteria provided, single submitter	clinical testing	The c.1229G>A (p.G410D) alteration is located in exon 7 (coding exon 7) of the SLC22A5 gene. This alteration results from a G to A substitution at nucleotide position 1229, causing the glycine (G) at amino acid position 410 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic	RCV000334950	SCV005411870	uncertain significance	not provided	2023-12-12	criteria provided, single submitter	clinical testing	PP3
Juno Genomics, Hangzhou Juno Genomics, Inc	RCV001086123	SCV005417401	uncertain significance	Renal carnitine transport defect		criteria provided, single submitter	clinical testing	PM2_Supporting+PP3