ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.302del (p.Leu101fs) (rs1064794791)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483150 SCV000569948 likely pathogenic not provided 2016-12-13 criteria provided, single submitter clinical testing Although the c.302delT likley pathogenic variant in the ACVRL1 gene has not been reported to ourknowledge, this variant causes a shift in reading frame starting at codon Leucine 101, changing it to an Arginine, and creating a premature stop codon at position 21 of the new reading frame, denoted p.Leu101ArgfsX21. This likely pathogenic variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay.Furthermore, the c.302delT variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In summary, c.302delT in the ACVRL1 gene is expected to be pathogenic, as loss of function variants in this gene are strongly associated with this phenotype.

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