ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.1099G>C (p.Ala367Pro)

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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 RCV002450562 SCV002732250 uncertain significance Cardiovascular phenotype 2021-12-08 criteria provided, single submitter clinical testing The p.A367P variant (also known as c.1099G>C), located in coding exon 6 of the SNTA1 gene, results from a G to C substitution at nucleotide position 1099. The alanine at codon 367 is replaced by proline, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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