ClinVar Miner

Submissions for variant NM_018249.6(CDK5RAP2):c.4175A>G (p.Gln1392Arg)

gnomAD frequency: 0.00043  dbSNP: rs138157153
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336434 SCV001529815 uncertain significance Microcephaly 3, primary, autosomal recessive 2018-05-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001587354 SCV001823241 uncertain significance not provided 2020-06-09 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001587354 SCV002148449 uncertain significance not provided 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1392 of the CDK5RAP2 protein (p.Gln1392Arg). This variant is present in population databases (rs138157153, 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: 1033895). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Ambry Genetics RCV002546777 SCV003649354 uncertain significance Inborn genetic diseases 2021-07-09 criteria provided, single submitter clinical testing The c.4175A>G (p.Q1392R) alteration is located in exon 27 (coding exon 27) of the CDK5RAP2 gene. This alteration results from a A to G substitution at nucleotide position 4175, causing the glutamine (Q) at amino acid position 1392 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV001587354 SCV004702067 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing CDK5RAP2: BP4

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