ClinVar Miner

Submissions for variant NM_018249.6(CDK5RAP2):c.2003A>G (p.Tyr668Cys)

gnomAD frequency: 0.00029  dbSNP: rs137966123
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194516 SCV000246927 uncertain significance not specified 2015-07-31 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000194516 SCV000258130 uncertain significance not specified 2015-06-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001007670 SCV000476943 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000885604 SCV001029063 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000885604 SCV001501041 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing CDK5RAP2: BP4
GeneDx RCV000885604 SCV003853183 uncertain significance not provided 2022-10-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31696992)
Ambry Genetics RCV004020312 SCV004922130 uncertain significance Inborn genetic diseases 2021-05-16 criteria provided, single submitter clinical testing The c.2003A>G (p.Y668C) alteration is located in exon 18 (coding exon 18) of the CDK5RAP2 gene. This alteration results from a A to G substitution at nucleotide position 2003, causing the tyrosine (Y) at amino acid position 668 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles RCV001007670 SCV000998538 uncertain significance Microcephaly 3, primary, autosomal recessive no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003947601 SCV004761526 likely benign CDK5RAP2-related disorder 2022-09-30 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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