ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3235A>G (p.Thr1079Ala) (rs61755576)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000429991 SCV000510762 uncertain significance not provided 2016-09-28 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000607638 SCV000719304 likely benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000652817 SCV000774689 uncertain significance Noonan syndrome 9 2018-07-10 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 1079 of the SOS2 protein (p.Thr1079Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs61755576, ExAC 0.01%). This variant has not been reported in the literature in individuals with SOS2-related disease. ClinVar contains an entry for this variant (Variation ID: 376857). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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