ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.622G>T (p.Ala208Ser)

dbSNP: rs61755579
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652814 SCV000774686 benign Noonan syndrome 9 2025-01-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001175494 SCV001339087 uncertain significance not specified 2022-01-17 criteria provided, single submitter clinical testing Variant summary: SOS2 c.622G>T (p.Ala208Ser) results in a conservative amino acid change located in the Dbl homology (DH) domain of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 3.7e-05 in 245786 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.622G>T has been reported in the literature as a maternally inherited VUS in an individual affected with pediatric heart disease (example, Reuter_2020). These report(s) do not provide unequivocal conclusions about association of the variant with Noonan Syndrome And Related Conditions. To our knowledge, no experimental evidence demonstrating an impact on protein function has 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 uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Genome-Nilou Lab RCV000652814 SCV002763123 uncertain significance Noonan syndrome 9 criteria provided, single submitter clinical testing

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