ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2148_2156delinsACGTGG (p.Val717_Pro719delinsArgGly)

dbSNP: rs1584326175
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000814015 SCV000954403 uncertain significance Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 2018-09-07 criteria provided, single submitter clinical testing This variant, c.2148_2156delinsACGTGG, results in the deletion of 3 amino acids of the COL1A2 protein combined with the insertion of 2 amino acids (p.Val717_Pro719delinsArgGly), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COL1A2-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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