ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3592A>G (p.Ile1198Val)

gnomAD frequency: 0.00002  dbSNP: rs747534810
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001141202 SCV001301531 uncertain significance Noonan syndrome 4 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV001141203 SCV001301532 uncertain significance Fibromatosis, gingival, 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics RCV002339415 SCV002619321 uncertain significance Cardiovascular phenotype 2021-12-23 criteria provided, single submitter clinical testing The p.I1198V variant (also known as c.3592A>G), located in coding exon 23 of the SOS1 gene, results from an A to G substitution at nucleotide position 3592. The isoleucine at codon 1198 is replaced by valine, an amino acid with highly 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.
Genome-Nilou Lab RCV001141202 SCV002763559 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001141203 SCV002763561 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505713 SCV002815586 uncertain significance Fibromatosis, gingival, 1; Noonan syndrome 4 2022-01-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003142076 SCV003822085 uncertain significance not provided 2021-05-07 criteria provided, single submitter clinical testing
Invitae RCV003539387 SCV004249670 likely benign RASopathy 2023-06-19 criteria provided, single submitter clinical testing

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