ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2770-15del

dbSNP: rs577038385
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200562 SCV000249941 benign not specified 2015-03-03 criteria provided, single submitter clinical testing This variant was found in TAAD,TAADV2-1
PreventionGenetics, part of Exact Sciences RCV000200562 SCV000303992 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000339968 SCV000425635 likely benign Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV002054293 SCV002435382 benign Ehlers-Danlos syndrome, classic type, 1 2024-01-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000200562 SCV004241242 benign not specified 2023-12-18 criteria provided, single submitter clinical testing Variant summary: COL5A2 c.2770-15delT alters a non-conserved nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0005 in 227710 control chromosomes. The observed variant frequency is approximately 80.1 fold of the estimated maximal expected allele frequency for a pathogenic variant in COL5A2 causing Ehlers-Danlos Syndrome phenotype (6.3e-06), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.2770-15delT in individuals affected with Ehlers-Danlos Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.

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