ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8639A>G (p.His2880Arg)

gnomAD frequency: 0.00035  dbSNP: rs185171880
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542800 SCV000656208 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001584355 SCV001819070 likely benign not provided 2021-12-14 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002527917 SCV003684735 uncertain significance Inborn genetic diseases 2022-06-13 criteria provided, single submitter clinical testing The c.8639A>G (p.H2880R) alteration is located in exon 60 (coding exon 59) of the COL12A1 gene. This alteration results from a A to G substitution at nucleotide position 8639, causing the histidine (H) at amino acid position 2880 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003905471 SCV004718400 likely benign COL12A1-related condition 2022-02-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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