ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.1429+7A>G (rs16957276)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174996 SCV000226413 benign not specified 2015-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000174996 SCV000514037 benign not specified 2018-03-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000370381 SCV000382016 likely benign Propionyl-CoA carboxylase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000174996 SCV000917966 benign not specified 2018-01-05 criteria provided, single submitter clinical testing Variant summary: The PCCA c.1429+7A>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 4420/277054 control chromosomes (51 homozygotes) at a frequency of 0.0159536, which is approximately 5 times the estimated maximal expected allele frequency of a pathogenic PCCA variant (0.003446), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
PreventionGenetics RCV000174996 SCV000303451 benign not specified criteria provided, single submitter clinical testing

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