ClinVar Miner

Submissions for variant NM_001039958.2(MESP2):c.116C>A (p.Ser39Ter)

dbSNP: rs1206731716
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671724 SCV000796732 likely pathogenic Spondylocostal dysostosis 2, autosomal recessive 2017-12-22 criteria provided, single submitter clinical testing
Invitae RCV001212144 SCV001383720 pathogenic not provided 2022-10-05 criteria provided, single submitter clinical testing 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 create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 555826). This variant has not been reported in the literature in individuals affected with MESP2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser39*) in the MESP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MESP2 are known to be pathogenic (PMID: 9242490, 18485326).

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