ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.1845G>T (p.Glu615Asp)

gnomAD frequency: 0.00001  dbSNP: rs769791947
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277956 SCV002565478 uncertain significance Ehlers-Danlos syndrome 2021-01-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004548257 SCV004107887 uncertain significance COL1A1-related disorder 2023-06-29 criteria provided, single submitter clinical testing The COL1A1 c.1845G>T variant is predicted to result in the amino acid substitution p.Glu615Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-48270188-C-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV003631236 SCV004551575 likely benign Osteogenesis imperfecta type I 2023-10-17 criteria provided, single submitter clinical testing

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