ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.455G>A (p.Gly152Asp)

gnomAD frequency: 0.00001  dbSNP: rs747821417
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000550851 SCV000632553 pathogenic Renal carnitine transport defect 2023-05-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Gly152 amino acid residue in SLC22A5. Other variant(s) that disrupt this residue have been observed in individuals with SLC22A5-related conditions (PMID: 23430869), which suggests that this may be a clinically significant amino acid residue. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SLC22A5 protein function. ClinVar contains an entry for this variant (Variation ID: 460408). This missense change has been observed in individual(s) with primary carnitine deficiency (Invitae). This variant is present in population databases (rs747821417, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 152 of the SLC22A5 protein (p.Gly152Asp).
Ambry Genetics RCV000623583 SCV000741241 likely pathogenic Inborn genetic diseases 2016-02-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000550851 SCV002055748 likely pathogenic Renal carnitine transport defect 2021-07-15 criteria provided, single submitter clinical testing
Giacomini Lab, University of California, San Francisco RCV000550851 SCV002576688 likely pathogenic Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research
Baylor Genetics RCV000550851 SCV005056771 likely pathogenic Renal carnitine transport defect 2024-03-10 criteria provided, single submitter clinical testing

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