ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3407T>C (p.Leu1136Ser)

gnomAD frequency: 0.00001  dbSNP: rs372874114
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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 RCV001233162 SCV001405744 likely benign Noonan syndrome 9 2024-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033192 SCV004052296 uncertain significance Cardiovascular phenotype 2023-07-19 criteria provided, single submitter clinical testing The c.3407T>C (p.L1136S) alteration is located in exon 22 (coding exon 22) of the SOS2 gene. This alteration results from a T to C substitution at nucleotide position 3407, causing the leucine (L) at amino acid position 1136 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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