ClinVar Miner

Submissions for variant NM_177550.5(SLC13A5):c.1127A>G (p.Lys376Arg)

gnomAD frequency: 0.00002  dbSNP: rs370020005
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001236512 SCV001409238 uncertain significance Developmental and epileptic encephalopathy, 25 2020-11-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SLC13A5-related conditions. This sequence change replaces lysine with arginine at codon 376 of the SLC13A5 protein (p.Lys376Arg). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs370020005, ExAC 0.005%). 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 tolerated, 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.

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