ClinVar Miner

Submissions for variant NM_177550.5(SLC13A5):c.1379C>A (p.Thr460Asn)

dbSNP: rs2150964787
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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 RCV001911536 SCV002172542 likely pathogenic Developmental and epileptic encephalopathy, 25 2023-03-23 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. 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 SLC13A5 protein function. ClinVar contains an entry for this variant (Variation ID: 1400875). This missense change has been observed in individual(s) with clinical features of SLC13A5-related conditions (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 460 of the SLC13A5 protein (p.Thr460Asn).

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