ClinVar Miner

Submissions for variant NM_001046.3(SLC12A2):c.1127A>G (p.Asn376Ser)

dbSNP: rs116621105
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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 RCV002008099 SCV002257565 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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. This variant disrupts the p.Asn376 amino acid residue in SLC12A2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 32658972). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SLC12A2 protein function. ClinVar contains an entry for this variant (Variation ID: 1476334). This variant has not been reported in the literature in individuals affected with SLC12A2-related conditions. This variant is present in population databases (rs116621105, gnomAD 0.007%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 376 of the SLC12A2 protein (p.Asn376Ser).
Fulgent Genetics, Fulgent Genetics RCV002484894 SCV002797605 uncertain significance Kilquist syndrome; Hearing loss, autosomal dominant 78; Delpire-McNeill syndrome 2021-08-04 criteria provided, single submitter clinical testing

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