ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.1218T>G (p.Ile406Met) (rs202011820)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000729934 SCV000857636 uncertain significance not provided 2018-06-11 criteria provided, single submitter clinical testing
GeneDx RCV000729934 SCV000582233 uncertain significance not provided 2016-12-08 criteria provided, single submitter clinical testing The I406M variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The I406M variant is observed in 14/9632 (0.15%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server)]. This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Isoleucine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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