ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8554C>T (p.Pro2852Ser)

gnomAD frequency: 0.00009  dbSNP: rs200375837
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001036304 SCV001199659 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-12-21 criteria provided, single submitter clinical testing
GeneDx RCV003148915 SCV003837160 uncertain significance not provided 2024-03-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
CeGaT Center for Human Genetics Tuebingen RCV003148915 SCV004185369 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003148915 SCV005407895 uncertain significance not provided 2024-05-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004746203 SCV005348844 uncertain significance COL12A1-related disorder 2024-09-17 no assertion criteria provided clinical testing The COL12A1 c.8554C>T variant is predicted to result in the amino acid substitution p.Pro2852Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.019% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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