ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2520A>G (p.Ala840=) (rs775682587)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587285 SCV000698741 benign not provided 2017-04-12 criteria provided, single submitter clinical testing Variant summary: The SOS2 c.2520A>G (p.Ala840Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect binding of multiple ESE sites. These predictions have not been confirmed by functional studies. This variant was found in 105/119170 control chromosomes from ExAC, predominantly observed in the Latino subpopulation at a frequency of 0.009083 (105/11560). This frequency is about 3633 times the estimated maximal expected allele frequency of a pathogenic SOS2 variant (0.0000025), suggesting this is likely a benign polymorphism found primarily in the populations of Latino origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Taken together, this variant is classified as Benign.
Invitae RCV001085249 SCV000774694 benign Noonan syndrome 9 2020-07-14 criteria provided, single submitter clinical testing

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