ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.929G>A (p.Arg310His) (rs143481916)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000349172 SCV000430441 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394772 SCV000430442 uncertain significance Gingival fibromatosis 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038577 SCV000062255 uncertain significance not specified 2011-08-26 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Arg310His varia nt has not been reported in the literature or identified in our laboratory in ov er 1,500 individuals. Computational analyses (PolyPhen, SIFT, AlignGVGD) do not suggest a high likelihood of impact to the protein primarily based upon a lack o f conservation across species including mammals. In particular, mouse, elephant, opossum, chicken, and frog have a histidine (His) at this position despite high nearby amino acid conservation. It should be noted that the sensitivity and spe cificity of these computational programs has not been determined by our laborato ry. Therefore, the clinical significance of this variant cannot be determined at this time; however based upon the arguments above, we would lean towards a more likely benign role.

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