ClinVar Miner

Submissions for variant NM_021930.6(RINT1):c.1333+1G>A (rs375350359)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000660530 SCV000782632 uncertain significance not provided 2017-02-09 criteria provided, single submitter clinical testing
Invitae RCV000660530 SCV000949740 uncertain significance not provided 2019-11-12 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 9 of the RINT1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs375350359, ExAC 0.01%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been observed in a family affected with breast cancer (PMID: 25050558). ClinVar contains an entry for this variant (Variation ID: 547947). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 25050558, 31204009). The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RINT1 cause disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Working Group: Pediatric metabolic liver diseases,University Hospital Heidelberg RCV000787311 SCV000864213 pathogenic Fulminant hepatic failure 2019-01-14 no assertion criteria provided research
OMIM RCV000853563 SCV000996529 pathogenic INFANTILE LIVER FAILURE SYNDROME 3 2019-10-24 no assertion criteria provided literature only

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