ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.4280G>A (p.Arg1427His)

gnomAD frequency: 0.00002  dbSNP: rs1033545876
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001203527 SCV001374696 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163536 SCV003889832 uncertain significance Inborn genetic diseases 2023-03-06 criteria provided, single submitter clinical testing The c.4280G>A (p.R1427H) alteration is located in exon 22 (coding exon 21) of the COL12A1 gene. This alteration results from a G to A substitution at nucleotide position 4280, causing the arginine (R) at amino acid position 1427 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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