Submissions for variant NM_004958.4(MTOR):c.2056C>T (p.His686Tyr)

gnomAD frequency: 0.00002  dbSNP: rs199502742

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001408817	SCV001610827	likely benign	not provided	2023-02-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004038048	SCV005009187	uncertain significance	Inborn genetic diseases	2024-02-28	criteria provided, single submitter	clinical testing	The c.2056C>T (p.H686Y) alteration is located in exon 13 (coding exon 12) of the MTOR gene. This alteration results from a C to T substitution at nucleotide position 2056, causing the histidine (H) at amino acid position 686 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx	RCV001408817	SCV005441453	uncertain significance	not provided	2024-06-28	criteria provided, single submitter	clinical testing	In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Apparently de novo variant in a patient referred for genetic testing at GeneDx; however, the reported clinical features are only partially consistent with the features typically observed in individuals with pathogenic variants in this gene