ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) (rs72681869)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513780 SCV000609920 benign not provided 2017-02-24 criteria provided, single submitter clinical testing
Invitae RCV000989216 SCV000656033 benign Noonan syndrome 9 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000513780 SCV000698747 benign not provided 2017-04-17 criteria provided, single submitter clinical testing Variant summary: The SOS2 c.572C>G (p.Pro191Arg) variant causes a missense change involving the alteration of a conserved nucleotide. 2/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). The variant of interest has been found in a large, broad control population, ExAC in 554/120618 control chromosomes (1 homozygote) at a frequency of 0.004593, which is approximately 1837 times the estimated maximal expected allele frequency of a pathogenic SOS2 variant (0.0000025), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
GeneDx RCV000613515 SCV000714912 benign not specified 2017-07-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics RCV000989216 SCV001139445 likely benign Noonan syndrome 9 2019-05-28 criteria provided, single submitter clinical testing

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