ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3116G>A (p.Arg1039Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002711904 SCV003006052 likely benign Noonan syndrome 9 2025-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004673710 SCV005170334 uncertain significance Cardiovascular phenotype 2024-03-28 criteria provided, single submitter clinical testing The c.3116G>A (p.R1039K) alteration is located in exon 20 (coding exon 20) of the SOS2 gene. This alteration results from a G to A substitution at nucleotide position 3116, causing the arginine (R) at amino acid position 1039 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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