ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3595T>C (p.Ser1199Pro)

gnomAD frequency: 0.00001  dbSNP: rs112353205
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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 RCV001351927 SCV001546444 likely benign RASopathy 2023-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004036666 SCV003730246 uncertain significance Cardiovascular phenotype 2021-07-14 criteria provided, single submitter clinical testing The c.3595T>C (p.S1199P) alteration is located in exon 23 (coding exon 23) of the SOS1 gene. This alteration results from a T to C substitution at nucleotide position 3595, causing the serine (S) at amino acid position 1199 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV004793454 SCV005411669 uncertain significance not provided 2024-03-27 criteria provided, single submitter clinical testing BP4

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