ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.834+1G>T (rs749315029)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779037 SCV000915487 likely pathogenic Primary hyperoxaluria, type III 2019-01-11 criteria provided, single submitter clinical testing The HOGA1 c.834+1G>T variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. The c.834+1G>T variant has been reported in two studies in which it is found in five individuals from three families affected with primary hyperoxaluria, including in one in a homozygous state and in four in a compound heterozygous state. The variant was absent from 79 control individuals and is reported at a frequency of 0.000725 in the East Asian population of the Genome Aggregation Database. Based on the potential impact of splice donor variants and the evidence, the c.834+1G>T variant is classified as likely pathogenic for primary hyperoxaluria. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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