ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.787-15G>A

gnomAD frequency: 0.00704  dbSNP: rs150200872
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124483 SCV000167916 benign not specified 2012-11-16 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.
PreventionGenetics, part of Exact Sciences RCV000124483 SCV000302250 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000393073 SCV000478511 likely benign Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586891 SCV000695403 benign not provided 2017-03-15 criteria provided, single submitter clinical testing Variant summary: The COL5A1 c.787-15G>A variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 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 2755/121118 control chromosomes (144 homozygotes) at a frequency of 0.0227464, which is approximately 18197 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 likely benign/benign. Taken together, this variant is classified as benign.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659440 SCV000781255 uncertain significance Ehlers-Danlos syndrome, classic type 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055497 SCV002357497 benign Ehlers-Danlos syndrome, classic type, 1 2025-02-03 criteria provided, single submitter clinical testing

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