ClinVar Miner

Submissions for variant NM_001735.3(C5):c.957CAA[1] (p.Asn320del)

dbSNP: rs772444483
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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 RCV001316976 SCV001507618 uncertain significance not provided 2021-08-28 criteria provided, single submitter clinical testing This variant, c.960_962del, results in the deletion of 1 amino acid(s) of the C5 protein (p.Asn320del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individual(s) with complement component 5 (C5) deficiency (PMID: 27026170). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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.
PreventionGenetics, part of Exact Sciences RCV003399098 SCV004106065 likely pathogenic C5-related disorder 2023-10-11 criteria provided, single submitter clinical testing The C5 c.960_962delCAA variant is predicted to result in an in-frame deletion (p.Asn320del). This variant was reported in the homozygous state in individuals with complement C5 deficiency (Colobran et al. 2016. PubMed ID: 27026170); this variant was also described in multiple individuals in a large cohort of patients with invasive meningococcal disease and complement deficiency (Rosain et al. 2017. PubMed ID: 28368462, supplementary data). This variant is reported in 0.010% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-123787769-CTTG-C). This variant is interpreted as likely pathogenic.

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