ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.295_299del (p.Val99fs) (rs1085307872)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489351 SCV000577544 pathogenic not provided 2017-03-21 criteria provided, single submitter clinical testing Although the c.295_299delGTGTC pathogenic variant in the ACVRL1 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon valine 99, changing it to a proline, and creating a premature stop codon at position 68 of the new reading frame, denoted p.Val99ProfsX68. 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. Other downstream frameshift variants in the ACVRL1 gene have been reported in Human Gene Mutation Database in association with HHT (Stenson et al., 2014), indicating that loss of function is a mechanism of disease for this gene. Furthermore, the c.295_299delGTGTC variant has not been observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).

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