ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.864+3A>G

gnomAD frequency: 0.00001  dbSNP: rs201119821
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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 RCV001929633 SCV002202208 uncertain significance RASopathy 2023-06-21 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the SOS1 gene. It does not directly change the encoded amino acid sequence of the SOS1 protein. It affects a nucleotide within the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 1426861). This variant has not been reported in the literature in individuals affected with SOS1-related conditions. This variant is present in population databases (rs201119821, gnomAD 0.002%).
Ambry Genetics RCV002370543 SCV002687799 uncertain significance Cardiovascular phenotype 2022-07-11 criteria provided, single submitter clinical testing The c.864+3A>G intronic variant results from an A to G substitution 3 nucleotides after coding exon 6 in the SOS1 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002468358 SCV002763488 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468357 SCV002763489 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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