ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.668C>T (p.Ser223Leu)

gnomAD frequency: 0.00002  dbSNP: rs779370807
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000171093 SCV000223658 uncertain significance not provided 2012-08-16 criteria provided, single submitter clinical testing The Ser223Leu variant in the SNTA1 gene has not been reported previously as a disease-causing mutation or as a benign polymorphism, to our knowledge. Ser223Leu results in a non-conservative amino acid substitution of a polar Serine residue with a non-polar Leucine residue at a position that is conserved in mammalian species. In silico analysis predicts Ser223Leu is possibly damaging to the protein structure/function. Additionally, the NHLBI ESP Exome Variant Server reports Ser223Leu was not observed in approximately 5,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. Nevertheless, no mutations in neighboring codons have been reported, suggesting this region of the protein may be tolerant of change. In summary, the clinical significance of the Ser223Leu variant in the SNTA1 gene is currently unknown. A pathogenic role of this variant would be supported if it co-segregates with a LQTS phenotype in a family. The variant is found in LQT panel(s).
Ambry Genetics RCV002362872 SCV002664864 uncertain significance Cardiovascular phenotype 2022-10-27 criteria provided, single submitter clinical testing The p.S223L variant (also known as c.668C>T), located in coding exon 3 of the SNTA1 gene, results from a C to T substitution at nucleotide position 668. The serine at codon 223 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Fulgent Genetics, Fulgent Genetics RCV002485079 SCV002782824 uncertain significance Long QT syndrome 12 2021-10-08 criteria provided, single submitter clinical testing

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