ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.386T>C (p.Leu129Pro)

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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 RCV002355605 SCV002622412 uncertain significance Cardiovascular phenotype 2020-01-03 criteria provided, single submitter clinical testing The p.L129P variant (also known as c.386T>C), located in coding exon 2 of the SNTA1 gene, results from a T to C substitution at nucleotide position 386. The leucine at codon 129 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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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