ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.548T>C (p.Ile183Thr)

dbSNP: rs772569423
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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 RCV001990497 SCV002257047 uncertain significance RASopathy 2023-06-12 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 not expected to disrupt SOS1 protein function. ClinVar contains an entry for this variant (Variation ID: 1466293). This variant has not been reported in the literature in individuals affected with SOS1-related conditions. This variant is present in population databases (rs772569423, gnomAD 0.003%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 183 of the SOS1 protein (p.Ile183Thr).
Ambry Genetics RCV002344131 SCV002652694 uncertain significance Cardiovascular phenotype 2022-09-26 criteria provided, single submitter clinical testing The p.I183T variant (also known as c.548T>C), located in coding exon 5 of the SOS1 gene, results from a T to C substitution at nucleotide position 548. The isoleucine at codon 183 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. 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 RCV002468368 SCV002763528 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468367 SCV002763530 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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