Submissions for variant NM_003060.4(SLC22A5):c.412G>T (p.Asp138Tyr)

dbSNP: rs534336326

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001320834	SCV001511637	uncertain significance	Renal carnitine transport defect	2024-10-14	criteria provided, single submitter	clinical testing	This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 138 of the SLC22A5 protein (p.Asp138Tyr). This variant is present in population databases (rs534336326, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of SLC22A5-related conditions (internal data). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1021133). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Giacomini Lab, University of California, San Francisco	RCV001320834	SCV002576714	uncertain significance	Renal carnitine transport defect	2022-10-03	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV004692487	SCV005188589	uncertain significance	not provided		criteria provided, single submitter	not provided