ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.578C>T (p.Pro193Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002359754 SCV002648941 uncertain significance Cardiovascular phenotype 2020-11-16 criteria provided, single submitter clinical testing The p.P193L variant (also known as c.578C>T), located in coding exon 5 of the SOS1 gene, results from a C to T substitution at nucleotide position 578. The proline at codon 193 is replaced by leucine, an amino acid with similar properties. This amino acid position is 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.
GeneDx RCV004725248 SCV005334233 uncertain significance not provided 2023-05-06 criteria provided, single submitter clinical testing Missense variants in this gene are often considered pathogenic (HGMD); 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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