ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.140G>C (p.Arg47Pro) (rs774389618)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426666 SCV000520849 uncertain significance not provided 2016-12-22 criteria provided, single submitter clinical testing The R47P variant of uncertain significance in the ACVRL1 gene has been reported previously in two unrelated individuals with HHT; however, detailed clinical information and segregation data was not provided (Whener et al., 2006; Nishida et al., 2012). This variant was absent in 50 healthy German control individuals (Wehner et al., 2006). The R47P 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, and functional studies show that R47P may lead to abnormal protein trafficking and processing (Alaa El Din et al., 2015). Nevertheless, this substitution occurs at a position that is not conserved.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or benign. This result cannot be interpreted for diagnosis or used for family member screening at this time.

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