ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2633C>G (p.Pro878Arg)

dbSNP: rs370974962
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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 RCV002049409 SCV002117462 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COL11A1 protein function. ClinVar contains an entry for this variant (Variation ID: 1352192). This variant has not been reported in the literature in individuals affected with COL11A1-related conditions. This variant is present in population databases (rs370974962, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 878 of the COL11A1 protein (p.Pro878Arg).
Ambry Genetics RCV002545717 SCV003581360 uncertain significance Inborn genetic diseases 2021-09-15 criteria provided, single submitter clinical testing The c.2633C>G (p.P878R) alteration is located in exon 33 (coding exon 33) of the COL11A1 gene. This alteration results from a C to G substitution at nucleotide position 2633, causing the proline (P) at amino acid position 878 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV002049409 SCV005685879 uncertain significance not provided 2024-07-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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 to our knowledge

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