ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.202-2A>G

dbSNP: rs863223281
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000005845 SCV002113645 likely pathogenic Achondrogenesis, type IA 2021-04-16 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. This variant has been observed in individual(s) with clinical features of TRIP11-related conditions (PMID: 20089971). ClinVar contains an entry for this variant (Variation ID: 5510). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 2 of the TRIP11 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 TRIP11 are known to be pathogenic (PMID: 20089971, 23956106).
OMIM RCV000005845 SCV000026027 pathogenic Achondrogenesis, type IA 2010-01-21 no assertion criteria provided literature only

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