Submissions for variant NM_000075.4(CDK4):c.481C>T (p.Leu161=)

gnomAD frequency: 0.00001  dbSNP: rs796860515

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000572505	SCV000669107	likely benign	Hereditary cancer-predisposing syndrome	2016-09-19	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000780104	SCV000917146	likely benign	not specified	2019-08-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000876451	SCV001019025	likely benign	Familial melanoma	2025-01-19	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000572505	SCV002534253	likely benign	Hereditary cancer-predisposing syndrome	2021-06-13	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV003392412	SCV004133592	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	CDK4: BP4, BP7
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003392412	SCV004221624	likely benign	not provided	2023-04-03	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004791590	SCV005406387	benign	Melanoma, cutaneous malignant, susceptibility to, 3	2024-09-25	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.