ClinVar Miner

Submissions for variant NM_004171.4(SLC1A2):c.1715G>A (p.Arg572His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003078139 SCV003469869 uncertain significance not provided 2023-08-04 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 2157513). This variant has not been reported in the literature in individuals affected with SLC1A2-related conditions. This variant is present in population databases (rs766885690, gnomAD 0.03%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 572 of the SLC1A2 protein (p.Arg572His).
Revvity Omics, Revvity RCV003138499 SCV003823340 uncertain significance Developmental and epileptic encephalopathy, 41 2019-05-28 criteria provided, single submitter clinical testing

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