ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.169A>T (p.Asn57Tyr)

gnomAD frequency: 0.00002  dbSNP: rs765764610
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001050512 SCV001214627 uncertain significance RASopathy 2023-11-22 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 57 of the SOS1 protein (p.Asn57Tyr). This variant is present in population databases (rs765764610, gnomAD 0.003%). 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: 847050). 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. 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.
GeneDx RCV002245843 SCV002512851 uncertain significance not provided 2022-04-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29493581)
Ambry Genetics RCV002400285 SCV002714068 uncertain significance Cardiovascular phenotype 2024-08-28 criteria provided, single submitter clinical testing The p.N57Y variant (also known as c.169A>T), located in coding exon 2 of the SOS1 gene, results from an A to T substitution at nucleotide position 169. The asparagine at codon 57 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. 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 RCV002468124 SCV002763607 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468123 SCV002763608 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479311 SCV002786777 uncertain significance Fibromatosis, gingival, 1; Noonan syndrome 4 2021-10-31 criteria provided, single submitter clinical testing

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