ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.382G>A (p.Val128Ile)

gnomAD frequency: 0.00004  dbSNP: rs752402979
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241159 SCV001414156 likely benign RASopathy 2023-07-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002366065 SCV002623853 uncertain significance Cardiovascular phenotype 2020-04-16 criteria provided, single submitter clinical testing The p.V128I variant (also known as c.382G>A), located in coding exon 4 of the SOS1 gene, results from a G to A substitution at nucleotide position 382. The valine at codon 128 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not 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 RCV002468203 SCV002763584 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468202 SCV002763585 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484323 SCV002797649 uncertain significance Fibromatosis, gingival, 1; Noonan syndrome 4 2021-08-06 criteria provided, single submitter clinical testing

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