ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.128+5C>T

dbSNP: rs749332805
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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 RCV000814249 SCV000954651 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2022-07-03 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the CYBA gene. It does not directly change the encoded amino acid sequence of the CYBA protein. It affects a nucleotide within the consensus splice site. 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 CYBA-related conditions. ClinVar contains an entry for this variant (Variation ID: 657609). 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 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.
Natera, Inc. RCV001274004 SCV001457686 uncertain significance Chronic granulomatous disease 2020-09-16 no assertion criteria provided clinical testing

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