Submissions for variant NM_000245.4(MET):c.1374A>G (p.Ser458=)

gnomAD frequency: 0.00004  dbSNP: rs755165691

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000866611	SCV001007733	likely benign	Renal cell carcinoma	2024-12-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001011248	SCV001171547	likely benign	Hereditary cancer-predisposing syndrome	2019-08-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003320765	SCV004025161	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV005249164	SCV005897844	benign	Papillary renal cell carcinoma type 1	2024-11-07	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.