ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1934T>C (p.Ile645Thr)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002410971 SCV002717526 uncertain significance Cardiovascular phenotype 2024-10-19 criteria provided, single submitter clinical testing The p.I645T variant (also known as c.1934T>C), located in coding exon 11 of the SOS1 gene, results from a T to C substitution at nucleotide position 1934. The isoleucine at codon 645 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.
CeGaT Center for Human Genetics Tuebingen RCV003427475 SCV004145973 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing SOS1: PM2
GeneDx RCV003427475 SCV005201267 uncertain significance not provided 2024-01-02 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)
Mayo Clinic Laboratories, Mayo Clinic RCV003427475 SCV005411671 uncertain significance not provided 2024-02-20 criteria provided, single submitter clinical testing PP2

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