ClinVar Miner

Submissions for variant NM_020708.5(SLC12A5):c.284C>T (p.Pro95Leu)

gnomAD frequency: 0.00010  dbSNP: rs780511606
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000444362 SCV000511276 uncertain significance not provided 2016-08-05 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001313521 SCV001504020 uncertain significance Developmental and epileptic encephalopathy, 34 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 95 of the SLC12A5 protein (p.Pro95Leu). This variant is present in population databases (rs780511606, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with SLC12A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 377102). 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. 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.
Ambry Genetics RCV004022271 SCV004056639 uncertain significance not specified 2023-08-21 criteria provided, single submitter clinical testing The c.353C>T (p.P118L) alteration is located in exon 4 (coding exon 4) of the SLC12A5 gene. This alteration results from a C to T substitution at nucleotide position 353, causing the proline (P) at amino acid position 118 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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