ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.523G>A (p.Val175Met)

gnomAD frequency: 0.00003  dbSNP: rs781721860
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725701 SCV000338710 uncertain significance not provided 2016-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000725701 SCV000522075 uncertain significance not provided 2023-09-28 criteria provided, single submitter clinical testing Published functional studies are inconclusive as to whether the variant alters carnitine transport (Toh DS et al., 2011; Frigeni M et al., 2017); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26828774, 27320645, 20208395, 21864509, 27956261, 34426522, 28841266, 29659532)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000390290 SCV000605135 likely benign not specified 2017-01-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000555036 SCV000632556 uncertain significance Renal carnitine transport defect 2022-04-26 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 175 of the SLC22A5 protein (p.Val175Met). This variant is present in population databases (rs781721860, gnomAD 0.04%). This missense change has been observed in individual(s) with primary carnitine deficiency (PMID: 26828774, 28841266). ClinVar contains an entry for this variant (Variation ID: 285602). 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 not expected to disrupt SLC22A5 protein function. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on SLC22A5 function (PMID: 21864509, 28841266). 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.
Genome-Nilou Lab RCV000555036 SCV002055750 uncertain significance Renal carnitine transport defect 2021-07-15 criteria provided, single submitter clinical testing
Institute of Immunology and Genetics Kaiserslautern RCV000555036 SCV004363623 uncertain significance Renal carnitine transport defect 2024-02-02 criteria provided, single submitter clinical testing ACMG Criteria: PM2; Variant was found in heterozygous state
Fulgent Genetics, Fulgent Genetics RCV000555036 SCV005669200 uncertain significance Renal carnitine transport defect 2024-04-09 criteria provided, single submitter clinical testing

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