ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.1564A>C (p.Asn522His) (rs761094509)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000764406 SCV000895463 uncertain significance Gingival fibromatosis 1; Noonan syndrome 4 2018-10-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000217384 SCV000272446 uncertain significance not specified 2016-01-07 criteria provided, single submitter clinical testing The p.Asn522His variant in SOS1 has not been previously reported in individuals with a RASopathy disorder, but has been identified in 3/66294 of European chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs761094509). Computational prediction tools and conservation analysis su ggest that this variant may impact the protein, though this information is not p redictive enough to determine pathogenicity. In summary, the clinical significan ce of the p.Asn522His variant is uncertain

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