ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.277C>T (p.Arg93Cys)

gnomAD frequency: 0.00006  dbSNP: rs372449299
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001574339 SCV001801141 uncertain significance not provided 2023-02-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign in association with a COL11A2-related disorder to our knowledge; This variant is associated with the following publications: (PMID: 32381728)
Labcorp Genetics (formerly Invitae), Labcorp RCV001574339 SCV002189435 uncertain significance not provided 2024-11-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 93 of the COL11A2 protein (p.Arg93Cys). This variant is present in population databases (rs372449299, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with COL11A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1206629). 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 COL11A2 protein function with a negative predictive value of 95%. 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 RCV002495919 SCV002783412 uncertain significance Autosomal recessive nonsyndromic hearing loss 53; Autosomal dominant nonsyndromic hearing loss 13; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2 2022-03-14 criteria provided, single submitter clinical testing

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