ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1761A>G (p.Pro587=)

gnomAD frequency: 0.00001  dbSNP: rs746150563
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755944 SCV000883627 likely benign not provided 2018-04-20 criteria provided, single submitter clinical testing The c.1761A>G; p.Pro587Pro variant (rs746150563) does not alter the amino acid sequence of the COL1A2 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with skeletal dysplasia in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with a South Asian population frequency of 0.01% (identified on 4 out of 30,778 chromosomes). Based on the available information, the c.1761A>G variant is likely to be benign.
Invitae RCV002533780 SCV003501587 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2019-12-31 criteria provided, single submitter clinical testing

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