ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1601A>G (p.Asn534Ser)

gnomAD frequency: 0.00002  dbSNP: rs780433336
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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 RCV001976704 SCV002260952 uncertain significance not provided 2022-04-28 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 534 of the SLC12A3 protein (p.Asn534Ser). This variant is present in population databases (rs780433336, gnomAD 0.004%). This missense change has been observed in individual(s) with Gitelman syndrome (PMID: 22009145). 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 not expected to disrupt SLC12A3 protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 RCV002492218 SCV002790944 likely pathogenic Familial hypokalemia-hypomagnesemia 2023-12-22 criteria provided, single submitter clinical testing

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