ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.570A>G (p.Thr190=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004520389 SCV005032149 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-08 criteria provided, single submitter clinical testing The c.570A>G variant (also known as p.T190T), located in coding exon 4 of the CDK4 gene, results from an A to G substitution at nucleotide position 570. This nucleotide substitution does not change the threonine at codon 190. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice donor site. Based on the available evidence, the clinical significance of this alteration remains unclear.
Myriad Genetics, Inc. RCV004787116 SCV005404628 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.

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