ClinVar Miner

Submissions for variant NC_000002.11:g.(?_39249778)_(39255748_?)del

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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 RCV002014630 SCV002233499 uncertain significance RASopathy 2020-12-28 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. This variant has not been reported in the literature in individuals with SOS1-related conditions. This variant results in the deletion of exon 9 and part of exon 10 (c.1075-4470_1791del) of the SOS1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SOS1 cause disease.

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