ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2965_2973dup (p.Pro989_Gly991dup)

dbSNP: rs1554398396
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622312 SCV000741469 pathogenic Inborn genetic diseases 2016-04-28 criteria provided, single submitter clinical testing
Invitae RCV001868144 SCV002317773 likely pathogenic Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2021-02-05 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has been observed in individual(s) with clinical features of autosomal dominant COL1A2-related conditions (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 521055). This variant is not present in population databases (ExAC no frequency). This variant, c.2965_2973dup, results in the insertion of 3 amino acid(s) to the COL1A2 protein (p.Pro989_Gly991dup), but otherwise preserves the integrity of the reading frame.

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