ClinVar Miner

Submissions for variant NM_001378156.1(C1QB):c.371C>A (p.Ala124Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002767975 SCV003583717 uncertain significance Inborn genetic diseases 2021-09-15 criteria provided, single submitter clinical testing The c.377C>A (p.A126D) alteration is located in exon 3 (coding exon 2) of the C1QB gene. This alteration results from a C to A substitution at nucleotide position 377, causing the alanine (A) at amino acid position 126 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Neuberg Centre For Genomic Medicine, NCGM RCV003445217 SCV004171892 uncertain significance C1Q deficiency criteria provided, single submitter clinical testing The missense c.371C>A(p.Ala124Asp) variant in C1QB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ala124Asp variant is reported with an allele frequency of 0.0004% in the gnomAD exomes database and is novel (not in any individuals) in 1000 Genomes database. This variant has not been reported to the ClinVar database. The amino acid change p.Ala124Asp in C1QB is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Ala at position 124 is changed to a Asp changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance.

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