ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.639T>A (p.Tyr213Ter)

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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 RCV002361545 SCV002658846 pathogenic Cardiovascular phenotype 2020-02-14 criteria provided, single submitter clinical testing The p.Y213* pathogenic mutation (also known as c.639T>A), located in coding exon 5 of the ACVRL1 gene, results from a T to A substitution at nucleotide position 639. This changes the amino acid from a tyrosine to a stop codon within coding exon 5. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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