ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.1021G>A (p.Ala341Thr)

gnomAD frequency: 0.00001  dbSNP: rs754242619
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000702428 SCV000831283 uncertain significance Long QT syndrome 2022-08-16 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 579200). This variant has not been reported in the literature in individuals affected with SNTA1-related conditions. This variant is present in population databases (rs754242619, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 341 of the SNTA1 protein (p.Ala341Thr). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV002422578 SCV002676407 uncertain significance Cardiovascular phenotype 2023-11-30 criteria provided, single submitter clinical testing The p.A341T variant (also known as c.1021G>A), located in coding exon 5 of the SNTA1 gene, results from a G to A substitution at nucleotide position 1021. The alanine at codon 341 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002477620 SCV002777215 uncertain significance Long QT syndrome 12 2021-08-12 criteria provided, single submitter clinical testing

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