ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.1678C>A (p.Pro560Thr)

gnomAD frequency: 0.00001  dbSNP: rs775466928
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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 RCV001930228 SCV002133124 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-11-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003487812 SCV004235382 uncertain significance not provided 2023-06-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040371 SCV004928471 uncertain significance Inborn genetic diseases 2022-08-17 criteria provided, single submitter clinical testing The c.1678C>A (p.P560T) alteration is located in exon 10 (coding exon 9) of the COL12A1 gene. This alteration results from a C to A substitution at nucleotide position 1678, causing the proline (P) at amino acid position 560 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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