ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.446G>A (p.Arg149His)

gnomAD frequency: 0.00002  dbSNP: rs763538232
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001544991 SCV001764226 uncertain significance not provided 2024-05-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD); In silico analysis indicates that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001544991 SCV002249187 benign not provided 2023-11-02 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV002466684 SCV002761870 uncertain significance Spondyloperipheral dysplasia 2021-09-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV003365428 SCV004055274 uncertain significance Inborn genetic diseases 2023-08-21 criteria provided, single submitter clinical testing The c.446G>A (p.R149H) alteration is located in exon 7 (coding exon 7) of the COL2A1 gene. This alteration results from a G to A substitution at nucleotide position 446, causing the arginine (R) at amino acid position 149 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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