ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1631A>T (p.Asp544Val)

gnomAD frequency: 0.00004  dbSNP: rs764068991
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001034915 SCV001198218 uncertain significance Renal carnitine transport defect 2019-12-12 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SLC22A5-related conditions. This variant is present in population databases (rs764068991, ExAC 0.01%). This sequence change replaces aspartic acid with valine at codon 544 of the SLC22A5 protein (p.Asp544Val). The aspartic acid residue is weakly conserved and there is a large physicochemical difference between aspartic acid and valine.
Giacomini Lab, University of California, San Francisco RCV001034915 SCV002576629 uncertain significance Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research

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