Submissions for variant NM_000090.4(COL3A1):c.79+7A>T

dbSNP: rs1687768235

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002302614	SCV002599082	uncertain significance	not specified	2022-09-19	criteria provided, single submitter	clinical testing	Variant summary: COL3A1 c.79+7A>T alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. One computational tool predicts the variant has a significant impact on normal splicing by weakening a canonical 5 prime donor site whereas three computational tools predict the variant has no significant impact on splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251364 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.79+7A>T in individuals affected with the vascular type of Ehlers-Danlos Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.