ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3289T>C (p.Ser1097Pro)

gnomAD frequency: 0.00010  dbSNP: rs141214900
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001069163 SCV001234312 likely benign Noonan syndrome 9 2024-01-27 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001069163 SCV003928093 uncertain significance Noonan syndrome 9 2023-04-03 criteria provided, single submitter clinical testing The SOS2 c.3289T>C (p.Ser1097Pro) missense change has a maximum subpopulation frequency of 0.022% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL is inconclusive about a pathogenic or benign effect of this variant on protein function, and to our knowledge functional studies have not been performed. To our knowledge, this variant has not been reported in individuals with Noonan syndrome. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
Ambry Genetics RCV004030701 SCV004957704 uncertain significance Cardiovascular phenotype 2022-05-05 criteria provided, single submitter clinical testing The c.3289T>C (p.S1097P) alteration is located in exon 20 (coding exon 20) of the SOS2 gene. This alteration results from a T to C substitution at nucleotide position 3289, causing the serine (S) at amino acid position 1097 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004689983 SCV005185497 likely benign not specified 2024-05-06 criteria provided, single submitter clinical testing

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