ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.221G>A (p.Gly74Asp)

gnomAD frequency: 0.00001  dbSNP: rs1031179639
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000518895 SCV000620278 uncertain significance not provided 2017-08-24 criteria provided, single submitter clinical testing The G74D variant in the SLC22A5 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G74D variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G74D variant is a non-conservative amino acid substitution, which occurs at a position that is not conserved. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G74D as a variant of uncertain significance.
Natera, Inc. RCV002226467 SCV002078281 uncertain significance Decreased circulating carnitine concentration 2020-10-14 no assertion criteria provided clinical testing
Natera, Inc. RCV001853661 SCV002107405 uncertain significance Renal carnitine transport defect 2020-10-14 no assertion criteria provided clinical testing

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