ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.1184A>G (p.Gln395Arg)

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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 RCV004508462 SCV005020237 uncertain significance Cardiovascular phenotype 2024-02-05 criteria provided, single submitter clinical testing The p.Q395R variant (also known as c.1184A>G), located in coding exon 6 of the SNTA1 gene, results from an A to G substitution at nucleotide position 1184. The glutamine at codon 395 is replaced by arginine, an amino acid with highly 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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