ClinVar Miner

Submissions for variant NM_001365088.1(SLC12A6):c.1484C>G (p.Ser495Cys)

gnomAD frequency: 0.00004  dbSNP: rs373077646
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001871594 SCV002227735 uncertain significance not provided 2024-08-06 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 495 of the SLC12A6 protein (p.Ser495Cys). This variant is present in population databases (rs373077646, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with SLC12A6-related conditions. ClinVar contains an entry for this variant (Variation ID: 991875). 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 SLC12A6 protein function with a positive predictive value of 80%. 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 RCV004967946 SCV005500303 uncertain significance Inborn genetic diseases 2024-11-12 criteria provided, single submitter clinical testing The c.1484C>G (p.S495C) alteration is located in exon 10 (coding exon 10) of the SLC12A6 gene. This alteration results from a C to G substitution at nucleotide position 1484, causing the serine (S) at amino acid position 495 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001280158 SCV001467315 uncertain significance Agenesis of the corpus callosum with peripheral neuropathy 2020-04-18 no assertion criteria provided clinical testing

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