ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.191A>T (p.Asn64Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Giacomini Lab, University of California, San Francisco RCV002286659 SCV002576673 uncertain significance Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research
Ambry Genetics RCV003269159 SCV003973245 uncertain significance Inborn genetic diseases 2023-04-25 criteria provided, single submitter clinical testing The c.191A>T (p.N64I) alteration is located in exon 1 (coding exon 1) of the SLC22A5 gene. This alteration results from a A to T substitution at nucleotide position 191, causing the asparagine (N) at amino acid position 64 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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