ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.626G>A (p.Arg209Lys)

gnomAD frequency: 0.00001  dbSNP: rs571441243
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596506 SCV000705557 uncertain significance not provided 2017-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764654 SCV000895777 uncertain significance Epiphyseal dysplasia, multiple, 6; Stickler syndrome, type 4 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000596506 SCV001531281 uncertain significance not provided 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 209 of the COL9A1 protein (p.Arg209Lys). This variant is present in population databases (rs571441243, gnomAD 0.03%). 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: 499848). 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.
Revvity Omics, Revvity RCV000596506 SCV003828289 uncertain significance not provided 2021-08-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004975701 SCV005569491 uncertain significance Inborn genetic diseases 2024-07-16 criteria provided, single submitter clinical testing The c.626G>A (p.R209K) alteration is located in exon 5 (coding exon 5) of the COL9A1 gene. This alteration results from a G to A substitution at nucleotide position 626, causing the arginine (R) at amino acid position 209 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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