ClinVar Miner

Submissions for variant NM_001046.3(SLC12A2):c.3622C>G (p.Leu1208Val)

dbSNP: rs761150347
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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 RCV001900438 SCV002138501 uncertain significance not provided 2024-09-19 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1208 of the SLC12A2 protein (p.Leu1208Val). This variant is present in population databases (rs761150347, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with SLC12A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1373721). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt SLC12A2 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.
Fulgent Genetics, Fulgent Genetics RCV002482589 SCV002782823 uncertain significance Kilquist syndrome; Hearing loss, autosomal dominant 78; Delpire-McNeill syndrome 2022-04-29 criteria provided, single submitter clinical testing
GeneDx RCV001900438 SCV005401556 uncertain significance not provided 2024-05-17 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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