ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3382C>T (p.His1128Tyr)

dbSNP: rs762576997
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002254062 SCV002525283 uncertain significance not provided 2022-06-01 criteria provided, single submitter clinical testing Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003164361 SCV003863135 uncertain significance Cardiovascular phenotype 2022-12-23 criteria provided, single submitter clinical testing The p.H1128Y variant (also known as c.3382C>T), located in coding exon 21 of the SOS1 gene, results from a C to T substitution at nucleotide position 3382. The histidine at codon 1128 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003655351 SCV004507914 likely benign RASopathy 2023-02-10 criteria provided, single submitter clinical testing

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