ClinVar Miner

Submissions for variant NM_001010874.5(TECRL):c.1073T>A (p.Met358Lys)

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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 RCV003382064 SCV004096548 uncertain significance Cardiovascular phenotype 2023-08-31 criteria provided, single submitter clinical testing The p.M358K variant (also known as c.1073T>A), located in coding exon 12 of the TECRL gene, results from a T to A substitution at nucleotide position 1073. The methionine at codon 358 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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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