ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.813G>A (p.Leu271=)

gnomAD frequency: 0.00011  dbSNP: rs1487727732
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573646 SCV000669101 likely benign Hereditary cancer-predisposing syndrome 2016-07-13 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001082604 SCV000760559 likely benign Familial melanoma 2025-01-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759741 SCV000889271 benign not provided 2018-05-11 criteria provided, single submitter clinical testing
GeneDx RCV000759741 SCV001916882 benign not provided 2015-05-19 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004787936 SCV005405341 benign Melanoma, cutaneous malignant, susceptibility to, 3 2024-09-26 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 RCV004745485 SCV005366407 likely benign CDK4-related disorder 2024-09-28 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).

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