ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.916del (p.Ala306fs) (rs1064796070)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481312 SCV000572472 pathogenic not provided 2016-12-19 criteria provided, single submitter clinical testing Although the c.916delG pathogenic variant in the ACVRL1 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Alanine 306, changing it to an Arginine, and creating a premature stop codon at position 48 of the new reading frame, denoted p.A306RfsX48. This 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. Many other frameshift variants in the ACVRL1 gene have been reported in HGMD in association with HHT (Stenson et al., 2014). Furthermore, the c.916delG variant was not observed in either the Exome Aggregation Consortium or 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.916delC in the ACVRL1 gene is interpreted as a pathogenic variant.

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