ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3845A>G (p.Asn1282Ser)

gnomAD frequency: 0.00001  dbSNP: rs376158218
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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 RCV001219605 SCV001391553 uncertain significance Noonan syndrome 9 2019-04-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SOS2-related conditions. This variant is not present in population databases (ExAC no frequency). 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. 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 serine 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. This sequence change replaces asparagine with serine at codon 1282 of the SOS2 protein (p.Asn1282Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine.

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