Submissions for variant NM_000075.4(CDK4):c.228C>T (p.Asp76=)

gnomAD frequency: 0.00001  dbSNP: rs772531745

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000232456	SCV000283394	likely benign	Familial melanoma	2025-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001015078	SCV001175872	likely benign	Hereditary cancer-predisposing syndrome	2015-11-12	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.
Sema4, Sema4	RCV001015078	SCV002534248	likely benign	Hereditary cancer-predisposing syndrome	2021-03-24	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003477785	SCV004221620	likely benign	not provided	2023-03-28	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004791352	SCV005403536	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.
PreventionGenetics, part of Exact Sciences	RCV003897512	SCV004712917	likely benign	CDK4-related disorder	2024-02-09	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).