ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1377A>G (p.Arg459=)

gnomAD frequency: 0.00018  dbSNP: rs142264458
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000333176 SCV000452739 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.
Invitae RCV000333176 SCV000632525 likely benign Renal carnitine transport defect 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000610118 SCV000715167 likely benign not specified 2017-01-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV000333176 SCV002055775 likely benign Renal carnitine transport defect 2021-07-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000333176 SCV001458339 likely benign Renal carnitine transport defect 2020-01-10 no assertion criteria provided clinical testing

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