Submissions for variant NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys)

gnomAD frequency: 0.00023  dbSNP: rs150775371

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000530403	SCV000632540	likely benign	Renal carnitine transport defect	2024-01-20	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000530403	SCV000895660	uncertain significance	Renal carnitine transport defect	2018-10-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000530403	SCV001313205	uncertain significance	Renal carnitine transport defect	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Mayo Clinic Laboratories, Mayo Clinic	RCV001509257	SCV001715870	uncertain significance	not provided	2019-11-18	criteria provided, single submitter	clinical testing
GeneDx	RCV001509257	SCV001783598	uncertain significance	not provided	2021-09-27	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab	RCV000530403	SCV002055783	uncertain significance	Renal carnitine transport defect	2021-07-15	criteria provided, single submitter	clinical testing
Giacomini Lab, University of California, San Francisco	RCV000530403	SCV002576590	likely benign	Renal carnitine transport defect	2022-10-03	criteria provided, single submitter	research
Baylor Genetics	RCV000530403	SCV003835835	uncertain significance	Renal carnitine transport defect	2022-10-22	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000530403	SCV001466192	uncertain significance	Renal carnitine transport defect	2020-09-04	no assertion criteria provided	clinical testing