ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.6900+4A>G (rs1057518706)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001378162 SCV001575672 likely pathogenic not provided 2020-09-09 criteria provided, single submitter clinical testing This sequence change falls in intron 87 of the COL7A1 gene. It does not directly change the encoded amino acid sequence of the COL7A1 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with dystrophic epidermolysis bullosa (PMID: 10504458, 16965329, 17425959). ClinVar contains an entry for this variant (Variation ID: 374314). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 16965329). 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.
Baylor Genetics RCV000415126 SCV000328815 pathogenic Generalized dominant dystrophic epidermolysis bullosa 2016-05-01 no assertion criteria provided clinical testing Our laboratory has reported dual molecular diagnoses in COL7A1 (NM_000094.3:c.6900+4A>G) and DDX3X (NM_001356.3:c.1052G>A) in an individual with microcephaly, delayed motor milestones, delayed speech, hypotonia, hyperreflexia, repetitive behaviors, dysmorphic features, mild conductive hearing loss, mild epidermolysis bullosa (EB) and a history of prematurity and genital anomalies.

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