ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3088A>G (p.Thr1030Ala) (rs550680554)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559916 SCV000656023 likely benign Noonan syndrome 9 2020-11-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001251388 SCV001426971 likely benign not specified 2020-07-13 criteria provided, single submitter clinical testing Variant summary: SOS2 c.3088A>G (p.Thr1030Ala) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00019 in 240566 control chromosomes. The observed variant frequency is approximately 75 fold of the estimated maximal expected allele frequency for a pathogenic variant in SOS2 causing Noonan Syndrome And Related Conditions phenotype (2.5e-06), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.3088A>G in individuals affected with Noonan Syndrome And Related Conditions and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
Service de Génétique Moléculaire,Hôpital Robert Debré RCV001261127 SCV001438534 likely benign Noonan syndrome no assertion criteria provided clinical testing

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