ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.3856C>T (p.Arg1286Cys)

gnomAD frequency: 0.00001  dbSNP: rs764448554
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816309 SCV000956810 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534895 SCV003539128 uncertain significance Inborn genetic diseases 2021-12-07 criteria provided, single submitter clinical testing The c.3856C>T (p.R1286C) alteration is located in exon 20 (coding exon 19) of the COL12A1 gene. This alteration results from a C to T substitution at nucleotide position 3856, causing the arginine (R) at amino acid position 1286 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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