ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.2356C>T (p.Arg786Ter)

dbSNP: rs2124514851
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001770724 SCV001992751 uncertain significance not provided 2019-06-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease
Labcorp Genetics (formerly Invitae), Labcorp RCV002032855 SCV002155971 uncertain significance RASopathy 2021-10-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg786*) in the SOS1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SOS1 cause disease. 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. This variant has not been reported in the literature in individuals affected with SOS1-related conditions. This variant is not present in population databases (ExAC no frequency).
Genome-Nilou Lab RCV002468299 SCV002763310 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468298 SCV002763311 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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