ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.304G>A (p.Asp102Asn)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Giacomini Lab, University of California, San Francisco RCV002286658 SCV002576672 uncertain significance Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002286658 SCV002937276 uncertain significance Renal carnitine transport defect 2022-04-28 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 102 of the SLC22A5 protein (p.Asp102Asn). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SLC22A5-related conditions. 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. 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.
Ambry Genetics RCV003097705 SCV003580037 uncertain significance Inborn genetic diseases 2021-10-20 criteria provided, single submitter clinical testing The c.304G>A (p.D102N) alteration is located in exon 1 (coding exon 1) of the SLC22A5 gene. This alteration results from a G to A substitution at nucleotide position 304, causing the aspartic acid (D) at amino acid position 102 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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