ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.3767A>G (p.His1256Arg)

gnomAD frequency: 0.00012  dbSNP: rs199692759
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246276 SCV001419619 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-11-24 criteria provided, single submitter clinical testing
GeneDx RCV001760284 SCV002008781 uncertain significance not provided 2022-12-19 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
Revvity Omics, Revvity RCV001760284 SCV003833391 uncertain significance not provided 2019-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034859 SCV004928483 uncertain significance Inborn genetic diseases 2023-12-23 criteria provided, single submitter clinical testing The c.3767A>G (p.H1256R) alteration is located in exon 19 (coding exon 18) of the COL12A1 gene. This alteration results from a A to G substitution at nucleotide position 3767, causing the histidine (H) at amino acid position 1256 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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