ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) (rs139203363)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000022295 SCV000840092 not provided Renal carnitine transport defect no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Invitae RCV000022295 SCV000632546 uncertain significance Renal carnitine transport defect 2018-11-15 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 12 of the SLC22A5 protein (p.Gly12Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs139203363, ExAC 0.1%). This variant has been reported in an individual affected with systemic primary carnitine deficiency with sudden infant death syndrome-like episode and in an individual affected with sudden unexpected death in infancy (PMID: 20574985, 28841266, 26350513, 28074886). ClinVar contains an entry for this variant (Variation ID: 25349). 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 disruptive, but these predictions have not been confirmed by published functional studies. 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.
Research and Development, ARUP Laboratories RCV000022295 SCV000042980 not provided Renal carnitine transport defect no assertion provided clinical testing
Research and Development, ARUP Laboratories RCV000022295 SCV000055584 not provided Renal carnitine transport defect no assertion provided clinical testing
Stanford Center for Inherited Cardiovascular Disease,Stanford University RCV000786404 SCV000925219 uncertain significance not provided 2017-09-22 no assertion criteria provided provider interpretation

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