ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.834_834+1delinsTT (rs1564760008)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807342 SCV000947390 pathogenic not provided 2018-11-30 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in the last intron (intron 6) of the HOGA1 gene. While this is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is not present in population databases (ExAC no frequency). Alteration of this splice site has been observed in individuals affected with primary hyperoxaluria type 3 and to segregate with disease in a family (PMID: 26340091, 25972204). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 26340091). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000766272 SCV000897729 pathogenic Primary hyperoxaluria, type III 2019-04-10 no assertion criteria provided literature only

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