ClinVar Miner

Submissions for variant NM_020708.5(SLC12A5):c.1558C>T (p.Pro520Ser)

gnomAD frequency: 0.00004  dbSNP: rs113818080
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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 RCV001320033 SCV001510803 uncertain significance Developmental and epileptic encephalopathy, 34 2021-08-12 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 520 of the SLC12A5 protein (p.Pro520Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs113818080, ExAC 0.002%). This missense change has been observed in individual(s) with clinical features of SLC12A5-related conditions (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697108 SCV005196837 uncertain significance not provided 2023-04-25 criteria provided, single submitter clinical testing

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