ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.1098T>A (p.Asp366Glu) (rs730881040)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000680311 SCV000704876 uncertain significance not provided 2017-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764407 SCV000895464 uncertain significance Gingival fibromatosis 1; Noonan syndrome 4 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000680311 SCV000209103 uncertain significance not provided 2016-06-22 criteria provided, single submitter clinical testing The D366E variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The D366E variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D366E 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 that is moderately conserved across species, with the same amino acid substitution tolerated at this site in one mammalian species and three vertebrate species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.

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