ClinVar Miner

Submissions for variant NM_018249.6(CDK5RAP2):c.4039C>G (p.Leu1347Val)

gnomAD frequency: 0.00057  dbSNP: rs144012972
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Total submissions: 3
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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 RCV001733401 SCV001983647 uncertain significance not specified 2021-09-28 criteria provided, single submitter clinical testing Variant summary: CDK5RAP2 c.4039C>G (p.Leu1347Val) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00014 in 251478 control chromosomes (gnomAD). To our knowledge, no occurrence of c.4039C>G in individuals affected with Primary Autosomal Recessive Microcephaly 3 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV002539829 SCV003285656 uncertain significance not provided 2022-03-11 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1347 of the CDK5RAP2 protein (p.Leu1347Val). This variant is present in population databases (rs144012972, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with CDK5RAP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1301368). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
CeGaT Center for Human Genetics Tuebingen RCV002539829 SCV004700519 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing CDK5RAP2: BP4

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