ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1859-3T>C

gnomAD frequency: 0.00004  dbSNP: rs199727062
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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 RCV001947735 SCV002187868 uncertain significance RASopathy 2024-01-25 criteria provided, single submitter clinical testing This sequence change falls in intron 10 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. This variant is present in population databases (rs199727062, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SOS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1415741). 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. 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.
Ambry Genetics RCV002407073 SCV002719587 uncertain significance Cardiovascular phenotype 2022-01-28 criteria provided, single submitter clinical testing The c.1859-3T>C intronic alteration consists of a T to C substitution 3 nucleotides before coding exon 11 in the SOS1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002468356 SCV002763364 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468355 SCV002763365 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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