ClinVar Miner

Submissions for variant NM_000183.3(HADHB):c.109+4C>T

dbSNP: rs769724590
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507552 SCV001713160 uncertain significance not provided 2019-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002564202 SCV003279446 uncertain significance Mitochondrial trifunctional protein deficiency 2023-11-24 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the HADHB gene. It does not directly change the encoded amino acid sequence of the HADHB protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs769724590, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with HADHB-related conditions. ClinVar contains an entry for this variant (Variation ID: 1162917). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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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