ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.143T>C (p.Val48Ala)

gnomAD frequency: 0.00001  dbSNP: rs373898570
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153987 SCV000203612 uncertain significance not provided 2013-12-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001234417 SCV001407062 uncertain significance RASopathy 2022-12-22 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) performed at Invitae indicates that this missense variant is expected to disrupt SOS1 protein function. ClinVar contains an entry for this variant (Variation ID: 167715). This variant has not been reported in the literature in individuals affected with SOS1-related conditions. This variant is present in population databases (rs373898570, gnomAD 0.002%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 48 of the SOS1 protein (p.Val48Ala).
Ambry Genetics RCV002390340 SCV002702898 uncertain significance Cardiovascular phenotype 2022-08-16 criteria provided, single submitter clinical testing The p.V48A variant (also known as c.143T>C), located in coding exon 2 of the SOS1 gene, results from a T to C substitution at nucleotide position 143. The valine at codon 48 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002467605 SCV002763609 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467604 SCV002763610 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing
GeneDx RCV000153987 SCV005379113 uncertain significance not provided 2024-10-22 criteria provided, single submitter clinical testing Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29493581)

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