ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3872_3873del (p.Pro1291fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002885299 SCV003237992 uncertain significance Noonan syndrome 9 2022-10-03 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with SOS2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the SOS2 gene (p.Pro1291Argfs*50). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 42 amino acid(s) of the SOS2 protein and extend the protein by 7 additional amino acid residues.

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