ClinVar Miner

Submissions for variant NM_004171.4(SLC1A2):c.777G>A (p.Met259Ile)

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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 RCV002885544 SCV003242834 uncertain significance not provided 2022-10-01 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SLC1A2 protein function. This missense change has been observed in individual(s) with clinical features of SLC1A2-related conditions (Invitae). This variant is present in population databases (rs201446570, gnomAD 0.05%). This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 259 of the SLC1A2 protein (p.Met259Ile).
Revvity Omics, Revvity RCV003138376 SCV003823338 uncertain significance Developmental and epileptic encephalopathy, 41 2020-04-04 criteria provided, single submitter clinical testing

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