ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn)

gnomAD frequency: 0.00004  dbSNP: rs370339027
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694591 SCV000823042 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001312075 SCV001502515 uncertain significance not provided 2020-10-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001312075 SCV003833403 likely benign not provided 2023-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003338735 SCV004057735 uncertain significance Inborn genetic diseases 2023-08-04 criteria provided, single submitter clinical testing The c.3782G>A (p.S1261N) alteration is located in exon 19 (coding exon 18) of the COL12A1 gene. This alteration results from a G to A substitution at nucleotide position 3782, causing the serine (S) at amino acid position 1261 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV001312075 SCV004223889 uncertain significance not provided 2022-03-25 criteria provided, single submitter clinical testing

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