ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.388T>C (p.Phe130Leu)

gnomAD frequency: 0.00004  dbSNP: rs199964677
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre RCV000515802 SCV000611727 uncertain significance Sick sinus syndrome 2017-05-17 criteria provided, single submitter research Patient was diagnosed with sick sinus syndrome at 10 years of age. No sinus rhythm was ever registered, the patient has permanent distal atrial rhythm with signs of early depolarization syndrome. At 16 years of age, he presented with syncope. Currently there are no indications for pacemaker implantation, atrial rhythm has proper rise upon physical activity.
Invitae RCV001035520 SCV001198849 uncertain significance Long QT syndrome 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 130 of the SNTA1 protein (p.Phe130Leu). This variant is present in population databases (rs199964677, gnomAD 0.004%). 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: 190929). 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.
Ambry Genetics RCV002354425 SCV002623555 uncertain significance Cardiovascular phenotype 2024-01-07 criteria provided, single submitter clinical testing The p.F130L variant (also known as c.388T>C), located in coding exon 2 of the SNTA1 gene, results from a T to C substitution at nucleotide position 388. The phenylalanine at codon 130 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. 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.

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