ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.1018A>G (p.Thr340Ala)

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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 RCV003296666 SCV004000398 uncertain significance Cardiovascular phenotype 2023-04-25 criteria provided, single submitter clinical testing The p.T340A variant (also known as c.1018A>G), located in coding exon 5 of the SNTA1 gene, results from an A to G substitution at nucleotide position 1018. The threonine at codon 340 is replaced by alanine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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