ClinVar Miner

Submissions for variant NM_015041.3(CLUAP1):c.688C>T (p.Arg230Ter)

gnomAD frequency: 0.00001  dbSNP: rs769705065
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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 RCV001854939 SCV002172374 uncertain significance not provided 2023-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg230*) in the CLUAP1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CLUAP1 cause disease. This variant is present in population databases (rs769705065, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with clinical features of CLUAP1-related conditions (PMID: 28679688). ClinVar contains an entry for this variant (Variation ID: 254178). 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.
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000496978 SCV000299272 likely pathogenic Familial aplasia of the vermis 2016-09-07 no assertion criteria provided research Exome analysis revealed two alterations in CLUAP1 in an individual with Joubert syndrome. This alteration and NM_015041.2:c.338T>G were determined to be in trans based on parental analysis. Genes known to cause Joubert syndrome are involved in primary cilia function and this alteration in CLUAP1 was shown to have an effect on intraflagellar transport. Additionally, this variant is rare in the ExAC database. This is the first report of alterations in CLUAP1 in an individual with Joubert syndrome and identifying additional Joubert patients with alterations in CLUAP1 will help confirm the pathogenicity of these variants.

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