ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.1117C>T (p.Arg373Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003648524 SCV004456283 uncertain significance Long QT syndrome 2023-09-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 373 of the SNTA1 protein (p.Arg373Cys). This variant is present in population databases (rs752149940, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SNTA1-related conditions. 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 SNTA1 protein function. 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.

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