ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3227G>A (p.Arg1076His)

gnomAD frequency: 0.00004  dbSNP: rs148464130
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001571169 SCV001795589 uncertain significance not provided 2024-03-12 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 RCV001571169 SCV002157534 benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001571169 SCV003831148 uncertain significance not provided 2021-08-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039368 SCV004926761 uncertain significance Inborn genetic diseases 2024-01-19 criteria provided, single submitter clinical testing The c.3227G>A (p.R1076H) alteration is located in exon 42 (coding exon 42) of the COL11A1 gene. This alteration results from a G to A substitution at nucleotide position 3227, causing the arginine (R) at amino acid position 1076 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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