ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.4616C>T (p.Thr1539Met)

gnomAD frequency: 0.00003  dbSNP: rs373216375
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001040597 SCV001204181 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-09-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145267 SCV003833301 uncertain significance not provided 2022-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160265 SCV003879046 uncertain significance Inborn genetic diseases 2023-01-31 criteria provided, single submitter clinical testing The c.4616C>T (p.T1539M) alteration is located in exon 25 (coding exon 24) of the COL12A1 gene. This alteration results from a C to T substitution at nucleotide position 4616, causing the threonine (T) at amino acid position 1539 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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