ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2943+1_2943+2del

dbSNP: rs1554398361
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658304 SCV000780076 pathogenic not provided 2018-05-15 criteria provided, single submitter clinical testing The c.2943+1_2943+2delGT splice site variant in the COL1A2 gene destroys the canonical splice donor site in intron 44 and is predicted to cause abnormal gene splicing. The adjacent exon 44 is in-frame and encodes a portion of the triple helical domain. Variants resulting in a loss or alteration of this region result in poor winding of the collagen triple helix and a less functional protein. The c.2943+1_2943+2delGT variant is not observed in large population cohorts (Lek et al., 2016).
Mendelics RCV002249384 SCV002518741 pathogenic Osteogenesis imperfecta, perinatal lethal 2022-05-04 criteria provided, single submitter clinical testing

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