ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.127G>C (p.Asp43His) (rs730881052)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159184 SCV000209130 uncertain significance not provided 2012-01-06 criteria provided, single submitter clinical testing The D43H missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The D43H missense change is a non-conservative amino acid substitution with a negatively charged residue (Asp) being replaced by a positively charged residue (His). The position at which this substitution occurs is conserved in the protein across species. To date, there have been no disease-associated mutations reported before codon Phenylalanine 78 in SOS1. The vast majority of missense changes in SOS1 are pathogenic; however, a small number of missense polymorphisms have been identified in this gene. The variant is found in NOONAN panel(s).
Blueprint Genetics RCV000159184 SCV000927507 uncertain significance not provided 2018-01-04 criteria provided, single submitter clinical testing

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