ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1199dup (p.Ser401fs)

dbSNP: rs2124539539
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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 RCV001927900 SCV002171611 uncertain significance RASopathy 2022-08-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser401Glufs*2) 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. ClinVar contains an entry for this variant (Variation ID: 1405078). This variant has not been reported in the literature in individuals affected with SOS1-related conditions. This variant is not present in population databases (gnomAD no frequency).

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