ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.794T>G (p.Met265Arg)

dbSNP: rs1752495086
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Stanford Medicine RCV001252960 SCV001427025 uncertain significance Renal carnitine transport defect 2019-01-10 no assertion criteria provided clinical testing The p.Met265Arg variant in the SLC22A5 gene has not been previously reported in association with disease. The variant was absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). The Met amino acid at position 265 is not evolutionarily conserved. These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, the significance of the p.Met265Arg variant is uncertain. Additional information is needed to resolve the significance of this variant. [ACMG evidence codes used: PM2]

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