ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3778C>G (p.Pro1260Ala)

dbSNP: rs779336305
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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 RCV000550544 SCV000659151 uncertain significance RASopathy 2023-03-27 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SOS1 protein function. ClinVar contains an entry for this variant (Variation ID: 477723). This variant has not been reported in the literature in individuals affected with SOS1-related conditions. This variant is present in population databases (rs779336305, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1260 of the SOS1 protein (p.Pro1260Ala).
Ambry Genetics RCV002350396 SCV002620421 uncertain significance Cardiovascular phenotype 2021-11-09 criteria provided, single submitter clinical testing The p.P1260A variant (also known as c.3778C>G), located in coding exon 23 of the SOS1 gene, results from a C to G substitution at nucleotide position 3778. The proline at codon 1260 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002467900 SCV002763205 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467899 SCV002763534 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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