ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.219-10C>T (rs759302811)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586402 SCV000695314 uncertain significance not provided 2017-02-23 criteria provided, single submitter clinical testing Variant summary: The CDK4 c.219-10C>T variant involves the alteration of a non-conserved intronic nucleotide. Mutation taster predicts a benign outcome for this variant along with 5/5 splice prediction tools predicting a benign impact on splicing. This variant was found in 1/121278 control chromosomes at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic CDK4 variant (0.00002). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Of note, this variant was identified in a single specimen tested at our laboratory to co-occur with another "Likely Pathogenic" BRCA2 variant c.1648G>T (p.E550*), thus supporting a possible benign outcome. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae RCV001436444 SCV001639286 likely benign Hereditary melanoma 2019-08-21 criteria provided, single submitter clinical testing

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