Submissions for variant NM_005633.4(SOS1):c.1574T>C (p.Ile525Thr)

gnomAD frequency: 0.00001  dbSNP: rs146722878

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000350752	SCV000329593	uncertain significance	not provided	2020-07-07	criteria provided, single submitter	clinical testing	Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Phosphorus, Inc.	RCV000578082	SCV000679914	uncertain significance	Noonan syndrome 4	2017-08-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001051525	SCV001215682	benign	RASopathy	2024-01-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000578082	SCV002763399	uncertain significance	Noonan syndrome 4		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002467700	SCV002763400	uncertain significance	Fibromatosis, gingival, 1		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003165717	SCV003855947	uncertain significance	Cardiovascular phenotype	2024-03-18	criteria provided, single submitter	clinical testing	The c.1574T>C (p.I525T) alteration is located in exon 10 (coding exon 10) of the SOS1 gene. This alteration results from a T to C substitution at nucleotide position 1574, causing the isoleucine (I) at amino acid position 525 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.