ClinVar Miner

Submissions for variant NM_005857.5(ZMPSTE24):c.475-2A>G

gnomAD frequency: 0.00001  dbSNP: rs312262685
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000128742 SCV003522654 pathogenic not provided 2022-04-04 criteria provided, single submitter clinical testing This variant is present in population databases (rs312262685, gnomAD 0.02%). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 140528). Disruption of this splice site has been observed in individual(s) with restrictive dermopathy (PMID: 24169522). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This sequence change affects an acceptor splice site in intron 4 of the ZMPSTE24 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 ZMPSTE24 are known to be pathogenic (PMID: 22718200, 24169522).
ZMPSTE24 homepage - Leiden Muscular Dystrophy pages RCV000128742 SCV000172382 not provided not provided no assertion provided not provided

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