ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.988_994dup (p.Lys332fs)

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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 RCV002382900 SCV002692799 pathogenic Cardiovascular phenotype 2016-09-29 criteria provided, single submitter clinical testing The c.994_995insGACTTCA pathogenic mutation, located in coding exon 6 of the ACVRL1 gene, results from an insertion of 7 nucleotides at position 994, causing a translational frameshift with a predicted alternate stop codon (p.K332Rfs*62). 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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