ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.864A>T (p.Arg288=)

gnomAD frequency: 0.00001  dbSNP: rs1369349270
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001407919 SCV001609905 likely benign Familial melanoma 2024-03-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377631 SCV002684247 likely benign Hereditary cancer-predisposing syndrome 2020-12-01 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. RCV004789577 SCV005405693 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.
GeneDx RCV005057371 SCV005689963 uncertain significance not provided 2024-08-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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