ClinVar Miner

Submissions for variant NC_000014.8:g.(?_50596659)_(50606797_?)dup

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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 RCV004578163 SCV005065635 uncertain significance Noonan syndrome 9 2023-02-18 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 17-21 of the SOS2 gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be out-of-frame, and may 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 SOS2 cause disease. This variant has not been reported in the literature in individuals affected with SOS2-related conditions. 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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