ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.843C>T (p.His281=)

gnomAD frequency: 0.00001  dbSNP: rs750061873
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000470264 SCV000559063 likely benign Familial melanoma 2024-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV001017774 SCV001178916 likely benign Hereditary cancer-predisposing syndrome 2015-04-07 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.
Myriad Genetics, Inc. RCV004787766 SCV005403970 benign Melanoma, cutaneous malignant, susceptibility to, 3 2024-09-27 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.

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