ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2275C>T (p.Pro759Ser)

gnomAD frequency: 0.00224  dbSNP: rs141517088
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003891924 SCV000310261 benign COL12A1-related disorder 2021-04-14 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Invitae RCV000541967 SCV000656136 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001582854 SCV001818877 likely benign not provided 2021-05-18 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000541967 SCV003919816 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-02-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in 0.7% (290/41390) of African/African American alleles, including 2 homozygotes, in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/6-75177825-G-A?dataset=gnomad_r3). This variant is present in ClinVar, with multiple laboratories classified as Likely Benign or Benign (Variation ID:259325). Computational predictive tools suggest that this variant does not impact the protein, but evolutionary conservation tools are unclear. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen RCV001582854 SCV004159772 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing COL12A1: BP4, BS2

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