ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.2467C>G (p.Pro823Ala) (rs1800214)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000315437 SCV000404143 uncertain significance Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363370 SCV000404144 uncertain significance Osteogenesis Imperfecta, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268773 SCV000404145 uncertain significance Infantile cortical hyperostosis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000438177 SCV000517169 uncertain significance not provided 2018-12-10 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL1A1 gene. The P823A variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 28/34408 (0.08%) alleles from individuals of Latino ancestry and in 56/126248 (0.04%) alleles from individuals of European (non-Finnish) ancestry in large population cohorts (Lek et al., 2016). The P823A variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Finally, P823A occurs in the triple helical domain at the X position in the canonical Gly-X-Y repeat. This variant may have an effect on normal protein folding and function, though missense substitution at the X position is not a common mechanism of disease. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Invitae RCV000438177 SCV000627205 likely benign not provided 2018-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000624859 SCV000741082 uncertain significance Inborn genetic diseases 2015-10-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected

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