ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.548T>C (p.Ile183Thr)

gnomAD frequency: 0.00003  dbSNP: rs759724577
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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 RCV001240516 SCV001413467 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 183 of the COL9A1 protein (p.Ile183Thr). This variant is present in population databases (no rsID available, gnomAD 0.02%). 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: 965952). 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.
GeneDx RCV001240516 SCV001770262 uncertain significance not provided 2021-02-03 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; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID#965952; Landrum et al., 2016)
Ambry Genetics RCV003166500 SCV003884128 uncertain significance Inborn genetic diseases 2023-01-23 criteria provided, single submitter clinical testing The c.548T>C (p.I183T) alteration is located in exon 5 (coding exon 5) of the COL9A1 gene. This alteration results from a T to C substitution at nucleotide position 548, causing the isoleucine (I) at amino acid position 183 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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