ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.484G>C (p.Ala162Pro)

dbSNP: rs1555201301
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553870 SCV000637371 uncertain significance Familial melanoma 2022-12-26 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 463467). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CDK4 protein function. This variant has not been reported in the literature in individuals affected with CDK4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 162 of the CDK4 protein (p.Ala162Pro).

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