ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6501G>A (rs767539005)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761228 SCV000891184 likely pathogenic Recessive dystrophic epidermolysis bullosa 2017-06-05 criteria provided, single submitter clinical testing
Biomedical Innovation Departament, CIEMAT RCV001352773 SCV001547355 pathogenic Dystrophic epidermolysis bullosa 2019-02-25 criteria provided, single submitter research
Invitae RCV001380774 SCV001578933 pathogenic not provided 2020-09-17 criteria provided, single submitter clinical testing This sequence change affects codon 2167 of the COL7A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the COL7A1 protein. This variant also falls at the last nucleotide of exon 79 of the COL7A1 coding sequence, which is part of the consensus splice site for this exon. This variant is present in population databases (rs767539005, ExAC 0.02%). This variant has been observed in individual(s) with recessive dystrophic epidermolysis bullosa (PMID: 28830826, 8900535, 10504458, 16971478). ClinVar contains an entry for this variant (Variation ID: 623128). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001380774 SCV001793722 pathogenic not provided 2020-12-30 no assertion criteria provided clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Variant alters last nucleotide of exon 79 at the splice donor site; In silico analysis supports that this variant does not alter splicing; however, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 28830826, 31589614, 29473190, 25525159, 8900535, 21448560, 16971478, 24213372, 31001817)

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