ClinVar Miner

Submissions for variant NM_015991.4(C1QA):c.162G>A (p.Pro54=)

gnomAD frequency: 0.00013  dbSNP: rs375714569
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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 RCV001982598 SCV002226126 uncertain significance not provided 2022-03-23 criteria provided, single submitter clinical testing This sequence change affects codon 54 of the C1QA mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the C1QA protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs375714569, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with C1QA-related conditions. 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224593 SCV003920548 uncertain significance C1Q deficiency 2022-07-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.04% (17/41436) (https://gnomad.broadinstitute.org/variant/1-22637778-G-A?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:1444785). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Although this variant occurs in the splice region, computational prediction tools do not suggest that it alters splicing. However, further studies are needed to understand its impact. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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