ClinVar Miner

Submissions for variant NM_001853.4(COL9A3):c.218C>T (p.Pro73Leu)

gnomAD frequency: 0.00004  dbSNP: rs768298010
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001771348 SCV002002566 uncertain significance not provided 2021-02-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001771348 SCV002280473 uncertain significance not provided 2025-01-07 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 73 of the COL9A3 protein (p.Pro73Leu). This variant is present in population databases (rs768298010, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with COL9A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1314117). 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 COL9A3 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 RCV002503227 SCV002786436 uncertain significance Epiphyseal dysplasia, multiple, 3; Intervertebral disc disorder 2022-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040281 SCV004929799 uncertain significance Inborn genetic diseases 2023-09-25 criteria provided, single submitter clinical testing The c.218C>T (p.P73L) alteration is located in exon 4 (coding exon 4) of the COL9A3 gene. This alteration results from a C to T substitution at nucleotide position 218, causing the proline (P) at amino acid position 73 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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