ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.832G>A (p.Glu278Lys)

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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 RCV004508478 SCV005020305 uncertain significance Cardiovascular phenotype 2024-03-02 criteria provided, single submitter clinical testing The p.E278K variant (also known as c.832G>A), located in coding exon 4 of the SNTA1 gene, results from a G to A substitution at nucleotide position 832. The glutamic acid at codon 278 is replaced by lysine, 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. Based on the available evidence, the clinical significance of this alteration remains unclear.

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