ClinVar Miner

Submissions for variant NM_018249.6(CDK5RAP2):c.574C>T (p.Arg192Trp)

gnomAD frequency: 0.00008  dbSNP: rs369568564
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145505 SCV000192592 uncertain significance Microcephaly 3, primary, autosomal recessive 2013-02-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000145505 SCV000476961 uncertain significance Microcephaly 3, primary, autosomal recessive 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV002055876 SCV002496272 uncertain significance not provided 2022-02-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002514804 SCV003710737 uncertain significance Inborn genetic diseases 2022-06-09 criteria provided, single submitter clinical testing The c.574C>T (p.R192W) alteration is located in exon 7 (coding exon 7) of the CDK5RAP2 gene. This alteration results from a C to T substitution at nucleotide position 574, causing the arginine (R) at amino acid position 192 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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