ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3547C>T (p.Pro1183Ser)

gnomAD frequency: 0.00002  dbSNP: rs139401491
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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 RCV001901816 SCV002173403 likely benign Noonan syndrome 9 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458772 SCV002616285 uncertain significance Cardiovascular phenotype 2024-08-23 criteria provided, single submitter clinical testing The p.P1183S variant (also known as c.3547C>T), located in coding exon 23 of the SOS2 gene, results from a C to T substitution at nucleotide position 3547. The proline at codon 1183 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001901816 SCV002762989 uncertain significance Noonan syndrome 9 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001901816 SCV004563713 uncertain significance Noonan syndrome 9 2023-08-08 criteria provided, single submitter clinical testing The SOS2 c.3547C>T; p.Pro1183Ser variant (rs139401491), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 1404777). This variant is found in the non-Finnish European population with an allele frequency of 0.0028% (3/106,010 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.386). Due to limited information, the clinical significance of this variant is uncertain at this time.

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