ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.25G>A (p.Glu9Lys)

dbSNP: rs1347187972
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000680743 SCV000808187 uncertain significance not provided 2018-04-17 criteria provided, single submitter clinical testing The E9K variant in the SOS1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The E9K variant is not observed in large population cohorts (Lek et al., 2016). The E9K 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. However, in silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. We interpret E9K as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002493123 SCV002789450 uncertain significance Fibromatosis, gingival, 1; Noonan syndrome 4 2021-08-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000680743 SCV005051505 uncertain significance not provided 2024-05-01 criteria provided, single submitter clinical testing SOS1: PM2

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