ClinVar Miner

Submissions for variant NM_018249.6(CDK5RAP2):c.2722C>T (p.Arg908Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002620565 SCV003506274 uncertain significance not provided 2024-12-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 908 of the CDK5RAP2 protein (p.Arg908Trp). This variant is present in population databases (rs754129550, gnomAD 0.006%). This missense change has been observed in individual(s) with CDK5RAP2-related conditions (PMID: 35013161). ClinVar contains an entry for this variant (Variation ID: 2188879). 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 RCV002620564 SCV003543383 uncertain significance Inborn genetic diseases 2022-08-16 criteria provided, single submitter clinical testing The c.2722C>T (p.R908W) alteration is located in exon 21 (coding exon 21) of the CDK5RAP2 gene. This alteration results from a C to T substitution at nucleotide position 2722, causing the arginine (R) at amino acid position 908 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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