ClinVar Miner

Submissions for variant NM_001039958.2(MESP2):c.349C>T (p.Gln117Ter)

dbSNP: rs1555439063
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666771 SCV000791121 likely pathogenic Spondylocostal dysostosis 2, autosomal recessive 2017-04-28 criteria provided, single submitter clinical testing
Invitae RCV002530694 SCV003336417 pathogenic not provided 2022-03-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 551651). For these reasons, this variant has been classified as Pathogenic. 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.Gln117*) 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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