ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3274G>A (p.Ala1092Thr)

gnomAD frequency: 0.00001  dbSNP: rs373948887
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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 RCV000812771 SCV000953095 benign RASopathy 2024-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325588 SCV002606475 uncertain significance Cardiovascular phenotype 2019-09-06 criteria provided, single submitter clinical testing The p.A1092T variant (also known as c.3274G>A), located in coding exon 20 of the SOS1 gene, results from a G to A substitution at nucleotide position 3274. The alanine at codon 1092 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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 RCV002468065 SCV002763233 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468064 SCV002763234 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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