ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1795C>A (p.Pro599Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003329052 SCV004035830 uncertain significance not provided 2023-03-16 criteria provided, single submitter clinical testing Identified in a patient with adrenocortical carcinoma (ACC) who also harbored a variant in the EGFR gene (Akhavanfard et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29493581, 33326033)

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