ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.1330G>A (p.Val444Met)

dbSNP: rs201571071
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171706 SCV000050723 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV002515252 SCV003512820 uncertain significance Long QT syndrome 2023-10-06 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 444 of the SNTA1 protein (p.Val444Met). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SNTA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 191507). 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 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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