ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.920C>A (p.Ala307Glu) (rs863223411)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200622 SCV000249630 uncertain significance not provided 2018-10-18 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ACVRL1 gene. The A307E variant has not been published as pathogenic or been reported as benign to our knowledge. The A307E variant is not observed in large population cohorts (Lek et al., 2016). The A307E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Furthermore, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Nevertheless, this variant lacks observation in a significant number of affected individuals, segregation data, and functional evidence, which would further clarify its pathogenicity.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign. This result cannot be interpreted for diagnosis or used for family member screening at this time.

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