ClinVar Miner

Submissions for variant NM_014362.4(HIBCH):c.1012-10T>G

dbSNP: rs1246020574
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000605801 SCV000732622 likely benign not specified 2017-06-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002528803 SCV003475159 uncertain significance 3-hydroxyisobutyryl-CoA hydrolase deficiency 2024-04-11 criteria provided, single submitter clinical testing This sequence change falls in intron 12 of the HIBCH gene. It does not directly change the encoded amino acid sequence of the HIBCH protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with HIBCH-related conditions. ClinVar contains an entry for this variant (Variation ID: 518029). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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