ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.4278G>A (p.Pro1426=)

gnomAD frequency: 0.00001  dbSNP: rs749738987
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002480919 SCV002786450 uncertain significance Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa; Nonsyndromic congenital nail disorder 8; Generalized dominant dystrophic epidermolysis bullosa 2022-01-13 criteria provided, single submitter clinical testing
Invitae RCV002542946 SCV003495834 uncertain significance not provided 2020-12-13 criteria provided, single submitter clinical testing This sequence change affects codon 1426 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 38, which is part of the consensus splice site for this exon. This variant is present in population databases (rs749738987, ExAC 0.006%). This variant has not been reported in the literature in individuals with COL7A1-related conditions. 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001280122 SCV001467275 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-10-14 no assertion criteria provided clinical testing

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