ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5532+1G>A

dbSNP: rs767182886
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579227 SCV000680735 pathogenic not provided 2022-11-23 criteria provided, single submitter clinical testing Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31589614, 25525159, 12485454, 10504458, 18558993, 15115517, 10383749, 24989707)
Undiagnosed Diseases Network, NIH RCV000626021 SCV000746631 pathogenic Recessive dystrophic epidermolysis bullosa 2018-03-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000579227 SCV001575674 likely pathogenic not provided 2022-05-24 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 488825). Disruption of this splice site has been observed in individual(s) with clinical features of epidermolysis bullosa dystrophica (PMID: 10383749, 22209565). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 64 of the COL7A1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478).
OMIM RCV000018990 SCV000039277 pathogenic Epidermolysis bullosa pruriginosa, autosomal recessive 1999-06-01 no assertion criteria provided literature only
Natera, Inc. RCV001272354 SCV001454266 pathogenic Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-09-16 no assertion criteria provided clinical testing

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