ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.3670C>T (p.Arg1224Cys)

gnomAD frequency: 0.00001  dbSNP: rs748277540
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700949 SCV000829728 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026535 SCV004928482 uncertain significance Inborn genetic diseases 2024-03-07 criteria provided, single submitter clinical testing The c.3670C>T (p.R1224C) alteration is located in exon 18 (coding exon 17) of the COL12A1 gene. This alteration results from a C to T substitution at nucleotide position 3670, causing the arginine (R) at amino acid position 1224 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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