ClinVar Miner

Submissions for variant NM_015991.4(C1QA):c.581A>C (p.Asn194Thr)

gnomAD frequency: 0.00024  dbSNP: rs201816009
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001730245 SCV002116855 uncertain significance not provided 2022-10-18 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 194 of the C1QA protein (p.Asn194Thr). This variant is present in population databases (rs201816009, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with C1QA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1299821). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001730245 SCV001978134 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001730245 SCV001980575 likely benign not provided no assertion criteria provided clinical testing

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