ClinVar Miner

Submissions for variant NM_001378156.1(C1QB):c.427G>A (p.Val143Met)

gnomAD frequency: 0.00001  dbSNP: rs749536477
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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 RCV001984922 SCV002214905 uncertain significance not provided 2025-01-06 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 145 of the C1QB protein (p.Val145Met). 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 C1QB-related conditions. ClinVar contains an entry for this variant (Variation ID: 1435489). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt C1QB protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV005016889 SCV005643947 uncertain significance C1Q deficiency 2 2024-04-19 criteria provided, single submitter clinical testing

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