ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2323A>G (p.Arg775Gly)

gnomAD frequency: 0.00009  dbSNP: rs200167099
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812517 SCV000952833 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537374 SCV003544864 uncertain significance Inborn genetic diseases 2021-12-03 criteria provided, single submitter clinical testing The c.2323A>G (p.R775G) alteration is located in exon 12 (coding exon 11) of the COL12A1 gene. This alteration results from a A to G substitution at nucleotide position 2323, causing the arginine (R) at amino acid position 775 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003225130 SCV003921555 uncertain significance not provided 2022-10-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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