ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3836C>T (p.Thr1279Ile)

gnomAD frequency: 0.00002  dbSNP: rs758258471
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693949 SCV000822373 likely benign RASopathy 2023-09-23 criteria provided, single submitter clinical testing
GeneDx RCV001551716 SCV001772283 likely benign not provided 2020-10-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813548 SCV002060882 uncertain significance Noonan syndrome and Noonan-related syndrome 2020-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360759 SCV002623880 uncertain significance Cardiovascular phenotype 2021-09-29 criteria provided, single submitter clinical testing The p.T1279I variant (also known as c.3836C>T), located in coding exon 23 of the SOS1 gene, results from a C to T substitution at nucleotide position 3836. The threonine at codon 1279 is replaced by isoleucine, an amino acid with similar properties. This alteration was identified in a control cohort in a study focused on individuals with melanoma (Pritchard AL et al. PLoS One, 2018 Apr;13:e0194098). 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155287 SCV003844640 uncertain significance not specified 2023-02-13 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001551716 SCV004224873 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing BP4
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001261116 SCV001438523 likely benign Noonan syndrome no assertion criteria provided clinical testing

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