ClinVar Miner

Submissions for variant NM_000093.4(COL5A1):c.2745+15A>T (rs79481146)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124429 SCV000167862 benign not specified 2012-11-02 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 RCV000330504 SCV000478547 likely benign Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589030 SCV000695390 benign not provided 2017-03-15 criteria provided, single submitter clinical testing Variant summary: The COL5A1 c.2745+15A>T variant involves the alteration of a non-conserved intronic nucleotide. 5/5 splice prediction tools predict elimination of a cryptic donor site. However, these predictions have yet to be confirmed by functional studies. This variant was found in 5658/120816 control chromosomes (186 homozygotes) at a frequency of 0.0468315, which is approximately 37465 times the estimated maximal expected allele frequency of a pathogenic COL5A1 variant (0.0000013), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as benign.
PreventionGenetics RCV000124429 SCV000302174 benign not specified criteria provided, single submitter clinical testing

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