Submissions for variant NM_000075.4(CDK4):c.309T>C (p.Tyr103=)

gnomAD frequency: 0.00001  dbSNP: rs554603181

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000422265	SCV000521095	likely benign	not specified	2015-11-17	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000906972	SCV001051643	likely benign	Familial melanoma	2025-01-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001018613	SCV001179869	likely benign	Hereditary cancer-predisposing syndrome	2019-11-27	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.
CeGaT Center for Human Genetics Tuebingen	RCV003992293	SCV004810564	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	CDK4: BP4, BP7
Myriad Genetics, Inc.	RCV004786693	SCV005406901	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.