ClinVar Miner

Submissions for variant NM_177550.5(SLC13A5):c.712A>G (p.Asn238Asp)

gnomAD frequency: 0.00001  dbSNP: rs747576233
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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 RCV001206522 SCV001377833 uncertain significance Developmental and epileptic encephalopathy, 25 2019-10-03 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with SLC13A5-related conditions. This variant is present in population databases (rs747576233, ExAC 0.01%). This sequence change replaces asparagine with aspartic acid at codon 238 of the SLC13A5 protein (p.Asn238Asp). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and aspartic acid.

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