ClinVar Miner

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

dbSNP: 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 2024-01-04 criteria provided, single submitter clinical testing This sequence change affects a splice site in intron 6 of the HOGA1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely disrupts the C-terminus of the protein. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. Disruption of this splice site has been observed in individuals with primary hyperoxaluria type 3 (PMID: 25972204, 26340091). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 625169). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that disruption of this splice site results in skipping of exon 6 and introduces a new termination codon (PMID: 26340091). However the mRNA is not expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000766272 SCV000897729 pathogenic Primary hyperoxaluria type 3 2019-04-10 no assertion criteria provided literature only

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