ClinVar Miner

Submissions for variant NM_020708.5(SLC12A5):c.2708A>T (p.Tyr903Phe)

dbSNP: rs2145505900
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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 RCV001891051 SCV002164950 uncertain significance Developmental and epileptic encephalopathy, 34 2022-07-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SLC12A5-related conditions. 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 expected to disrupt SLC12A5 protein function. ClinVar contains an entry for this variant (Variation ID: 1390543). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 903 of the SLC12A5 protein (p.Tyr903Phe).

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