ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.1226G>A (p.Gly409Glu)

dbSNP: rs386833989
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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 RCV000049966 SCV004293773 likely pathogenic Salla disease 2023-09-12 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects SLC17A5 function (PMID: 17933575, 18399798). 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 expected to disrupt SLC17A5 protein function. ClinVar contains an entry for this variant (Variation ID: 56553). This missense change has been observed in individual(s) with SLC17A5-related conditions (PMID: 15172001). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs386833989, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 409 of the SLC17A5 protein (p.Gly409Glu).
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049966 SCV000082375 probable-pathogenic Salla disease no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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