ClinVar Miner

Submissions for variant NM_001010874.5(TECRL):c.452A>G (p.Tyr151Cys)

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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 RCV002328733 SCV002633441 uncertain significance Cardiovascular phenotype 2022-01-26 criteria provided, single submitter clinical testing The p.Y151C variant (also known as c.452A>G), located in coding exon 5 of the TECRL gene, results from an A to G substitution at nucleotide position 452. The tyrosine at codon 151 is replaced by cysteine, an amino acid with highly dissimilar 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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