ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.35G>A (p.Gly12Asp)

dbSNP: rs886043206
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000363931 SCV000338941 uncertain significance not provided 2016-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001232748 SCV001405316 uncertain significance Renal carnitine transport defect 2019-08-06 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 12 of the SLC22A5 protein (p.Gly12Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLC22A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 285771). 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 and their clinical significance is uncertain. 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 RCV001232748 SCV002055838 uncertain significance Renal carnitine transport defect 2021-07-15 criteria provided, single submitter clinical testing

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