ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.162A>G (p.Gln54=) (rs763520126)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000248609 SCV000311185 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000248609 SCV000730058 likely benign not specified 2017-07-07 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.
Integrated Genetics/Laboratory Corporation of America RCV000248609 SCV001338594 likely benign not specified 2020-04-18 criteria provided, single submitter clinical testing
Invitae RCV001237896 SCV001410683 uncertain significance Rasopathy 2019-11-12 criteria provided, single submitter clinical testing This sequence change affects codon 54 of the SOS1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SOS1 protein. This variant is present in population databases (rs763520126, ExAC 0.004%). This variant has not been reported in the literature in individuals with SOS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 259842). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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