ClinVar Miner

Submissions for variant NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly)

gnomAD frequency: 0.00006  dbSNP: rs375476174
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000360126 SCV000357528 likely benign Epiphyseal dysplasia, multiple, 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000498672 SCV000590186 uncertain significance not provided 2023-09-27 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 RCV000498672 SCV002394813 benign not provided 2024-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002520489 SCV003681415 uncertain significance Inborn genetic diseases 2022-09-26 criteria provided, single submitter clinical testing The c.1123C>G (p.R375G) alteration is located in exon 22 (coding exon 22) of the COL9A2 gene. This alteration results from a C to G substitution at nucleotide position 1123, causing the arginine (R) at amino acid position 375 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect, ClinGen RCV000509212 SCV000607219 not provided Epiphyseal dysplasia, multiple, 2; Stickler syndrome, type 5 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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