ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.2333C>T (p.Ala778Val)

gnomAD frequency: 0.00001  dbSNP: rs767229176
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001914446 SCV002196543 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 778 of the COL9A1 protein (p.Ala778Val). This variant is present in population databases (rs767229176, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with COL9A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1420675). 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 COL9A1 protein function. 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, The Hospital for Sick Children RCV002276934 SCV002566393 uncertain significance Connective tissue disorder 2021-04-28 criteria provided, single submitter clinical testing
GeneDx RCV001914446 SCV005437195 uncertain significance not provided 2024-06-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005031897 SCV005672792 uncertain significance Epiphyseal dysplasia, multiple, 6; Stickler syndrome, type 4 2024-04-29 criteria provided, single submitter clinical testing

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