ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.713dup (p.Val239fs)

dbSNP: rs760930050
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001225157 SCV001397396 pathogenic not provided 2023-08-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the HOGA1 protein in which other variant(s) (p.Cys257Gly, p.Arg255X) have been determined to be pathogenic (PMID: 20797690, 21896830, 22771891, 25972204). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 952942). This variant has not been reported in the literature in individuals affected with HOGA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val239Argfs*36) in the HOGA1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 89 amino acid(s) of the HOGA1 protein.
Fulgent Genetics, Fulgent Genetics RCV005040049 SCV005678519 likely pathogenic Primary hyperoxaluria type 3 2024-04-10 criteria provided, single submitter clinical testing

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