ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.9187G>A (p.Gly3063Ser)

gnomAD frequency: 0.00004  dbSNP: rs746453262
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686747 SCV000814279 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-03-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144486 SCV003832828 uncertain significance not provided 2022-05-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV003278989 SCV003959313 uncertain significance Inborn genetic diseases 2023-05-23 criteria provided, single submitter clinical testing The c.9187G>A (p.G3063S) alteration is located in exon 66 (coding exon 65) of the COL12A1 gene. This alteration results from a G to A substitution at nucleotide position 9187, causing the glycine (G) at amino acid position 3063 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003144486 SCV004170697 uncertain significance not provided 2023-11-07 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 does not alter protein structure/function

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