ClinVar Miner

Submissions for variant NM_001046.3(SLC12A2):c.2210T>A (p.Leu737Gln)

gnomAD frequency: 0.00001  dbSNP: rs376802988
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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 RCV002005346 SCV002265094 uncertain significance not provided 2023-09-17 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1473763). 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 SLC12A2 protein function. This variant has not been reported in the literature in individuals affected with SLC12A2-related conditions. This variant is present in population databases (rs376802988, gnomAD 0.01%). This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 737 of the SLC12A2 protein (p.Leu737Gln).
Fulgent Genetics, Fulgent Genetics RCV002484878 SCV002793107 uncertain significance Kilquist syndrome; Hearing loss, autosomal dominant 78; Delpire-McNeill syndrome 2022-03-09 criteria provided, single submitter clinical testing

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