Submissions for variant NM_003060.4(SLC22A5):c.1440C>T (p.Phe480=)

gnomAD frequency: 0.00014  dbSNP: rs150457229

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000872503	SCV001014322	likely benign	Renal carnitine transport defect	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000872503	SCV001319069	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.
Genome-Nilou Lab	RCV000872503	SCV002055780	likely benign	Renal carnitine transport defect	2021-07-15	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV002226501	SCV002078359	likely benign	Decreased circulating carnitine concentration	2020-02-12	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000872503	SCV002107482	likely benign	Renal carnitine transport defect	2020-02-12	no assertion criteria provided	clinical testing