ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.4898G>A (p.Gly1633Asp)

gnomAD frequency: 0.00010  dbSNP: rs143920565
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000991816 SCV001143587 uncertain significance not provided 2019-04-19 criteria provided, single submitter clinical testing
GeneDx RCV000991816 SCV001816751 uncertain significance not provided 2023-12-17 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 RCV000991816 SCV002256248 likely benign not provided 2025-01-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000991816 SCV003831161 uncertain significance not provided 2022-06-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030131 SCV004928465 uncertain significance Inborn genetic diseases 2024-03-04 criteria provided, single submitter clinical testing The c.4898G>A (p.G1633D) alteration is located in exon 65 (coding exon 65) of the COL11A2 gene. This alteration results from a G to A substitution at nucleotide position 4898, causing the glycine (G) at amino acid position 1633 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004749580 SCV005353407 uncertain significance COL11A2-related disorder 2024-03-07 no assertion criteria provided clinical testing The COL11A2 c.4898G>A variant is predicted to result in the amino acid substitution p.Gly1633Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.013% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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