ClinVar Miner

Submissions for variant NM_153447.4(NLRP5):c.62+1G>A

gnomAD frequency: 0.00004  dbSNP: rs199475763
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000089556 SCV003277381 likely pathogenic not provided 2022-07-05 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 1 of the NLRP5 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NLRP5 are known to be pathogenic (PMID: 11062459, 30877238, 32172300). This variant is present in population databases (rs199475763, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with NLRP5-related conditions. ClinVar contains an entry for this variant (Variation ID: 103296). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Human Evolutionary Genetics, Institut Pasteur RCV000089556 SCV000122015 untested not provided no assertion provided not provided Converted during submission to not provided.

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