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

gnomAD frequency: 0.00002  dbSNP: rs758258471

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000693949	SCV000822373	likely benign	RASopathy	2024-08-20	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	2024-07-31	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 amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant 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