ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.1106G>A (p.Arg369His)

gnomAD frequency: 0.00002  dbSNP: rs1012069434
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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 RCV000804714 SCV000944636 uncertain significance Long QT syndrome 2024-10-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 369 of the SNTA1 protein (p.Arg369His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 649723). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt SNTA1 protein function with a positive predictive value of 80%. 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 RCV002487718 SCV002792798 uncertain significance Long QT syndrome 12 2021-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028191 SCV005020235 uncertain significance Cardiovascular phenotype 2023-09-15 criteria provided, single submitter clinical testing The p.R369H variant (also known as c.1106G>A), located in coding exon 6 of the SNTA1 gene, results from a G to A substitution at nucleotide position 1106. The arginine at codon 369 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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