ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1586G>T (p.Gly529Val)

gnomAD frequency: 0.00008  dbSNP: rs201307440
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000635347 SCV000756752 uncertain significance Renal carnitine transport defect 2022-08-20 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 529 of the SLC22A5 protein (p.Gly529Val). This variant also falls at the last nucleotide of exon 9, which is part of the consensus splice site for this exon. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with SLC22A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 529847). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Giacomini Lab, University of California, San Francisco RCV000635347 SCV002576634 uncertain significance Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research
Natera, Inc. RCV001274340 SCV001458341 uncertain significance Decreased circulating carnitine concentration 2019-11-11 no assertion criteria provided clinical testing

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