ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6738G>T (p.Leu2246Phe)

gnomAD frequency: 0.00001  dbSNP: rs575575729
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002265364 SCV002547036 uncertain significance not provided 2022-01-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV002265364 SCV003454210 likely benign not provided 2024-07-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV003101487 SCV003748586 uncertain significance Inborn genetic diseases 2021-08-12 criteria provided, single submitter clinical testing The c.6738G>T (p.L2246F) alteration is located in exon 85 (coding exon 85) of the COL7A1 gene. This alteration results from a G to T substitution at nucleotide position 6738, causing the leucine (L) at amino acid position 2246 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Neuberg Centre For Genomic Medicine, NCGM RCV003388627 SCV004100394 uncertain significance Recessive dystrophic epidermolysis bullosa criteria provided, single submitter clinical testing The missense variant p.L2246F in COL7A1 (NM_000094.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is observed in 32/30614 (0.1045%) alleles from individuals of South Asian background in the gnomAD dataset (Exome Aggregation Consortium et al., 2016), but was not seen in the homozygous state. The variant is damaging by SIFT and PolyPhen2 and the residue is conserved across species. For these reasons, this variant has been classified as Uncertain Significance.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.