ClinVar Miner

Submissions for variant NM_000587.4(C7):c.2350+1del

dbSNP: rs779723422
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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 RCV001873206 SCV002182740 uncertain significance not provided 2022-10-30 criteria provided, single submitter clinical testing This sequence change affects a splice site in intron 17 of the C7 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is present in population databases (rs779723422, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with C7-related conditions. ClinVar contains an entry for this variant (Variation ID: 635449). 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.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000786903 SCV000925803 pathogenic Complement component 7 deficiency 2018-11-14 no assertion criteria provided clinical testing

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