ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.2606A>G (p.Asn869Ser)

gnomAD frequency: 0.00001  dbSNP: rs730881030
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000590000 SCV000209078 uncertain significance not provided 2024-01-31 criteria provided, single submitter clinical testing Identified in a fetus with increased nuchal translucency, heart defect, pyelectasis, and polyhydramnios; however, familial segregation information was not provided (PMID: 30050098); Identified in a patient with a diagnosis of Noonan syndrome; however, additional clinical information and familial segregation information was not provided (PMID: 33318624); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29907801, 33318624, 30050098)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590000 SCV000698625 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing Variant summary: The SOS1 c.2606A>G (p.Asn869Ser) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). Asn869 is conserved across vertebrates and is located in the Ras guanine-nucleotide exchange factors catalytic domain. However, this variant has not been evaluated for functional impact by in vivo/vitro studies. This variant was absent in 121324 control chromosomes and has not, to our knowledge, been reported in affected individuals via publications. In addition, one clinical diagnostic laboratory classified this variant as a variant of uncertain significance. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Genome-Nilou Lab RCV002467626 SCV002763281 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467625 SCV002763282 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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