ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.1315G>C (p.Gly439Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004508465 SCV005020296 uncertain significance Cardiovascular phenotype 2023-11-21 criteria provided, single submitter clinical testing The p.G439R variant (also known as c.1315G>C), located in coding exon 7 of the SNTA1 gene, results from a G to C substitution at nucleotide position 1315. The glycine at codon 439 is replaced by arginine, an amino acid with dissimilar 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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