ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.3709C>G (p.Pro1237Ala) (rs371408734)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000764404 SCV000895461 uncertain significance Gingival fibromatosis 1; Noonan syndrome 4 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345549 SCV000430415 uncertain significance Gingival fibromatosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379826 SCV000430416 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000525329 SCV000659149 uncertain significance Rasopathy 2018-02-08 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 1237 of the SOS1 protein (p.Pro1237Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. This variant is present in population databases (rs371408734, ExAC 0.02%) but has not been reported in the literature in individuals with a SOS1-related disease. ClinVar contains an entry for this variant (Variation ID: 336015). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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