ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1074+12_1074+14delinsGAA

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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 RCV002938614 SCV003264325 uncertain significance RASopathy 2023-11-19 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the SOS1 gene. It does not directly change the encoded amino acid sequence of the SOS1 protein. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with SOS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2056549). Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. 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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