ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.4448G>A (p.Gly1483Asp) (rs756217590)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000331750 SCV000329316 pathogenic not provided 2016-06-06 criteria provided, single submitter clinical testing The G1483D variant in the COL7A1 gene has been reported previously as a pathogenic variant (Almaani et al. 2009). The G1483D variant was observed in the heterozygous state in a mildly affected Kuwati girl with a history of blistering at birth, that healed with minimal scarring, and ceased within the first year of life (Almaani et al. 2011). However, the G1483D variant was also reported in the homozygous state in three Kuwati children from two unrelated families. These affected individuals exhibited skin fragility with generalized recurrent blistering, nail dystrophy, and oral ulcers. All four heterozygous parents were clinically unaffected (Almaani et al. 2011). The G1483D variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G1483D variant is found in the highly conserved Gly-X-Y repeat in the collagenous domain of the colVII protein where it causes destabilization of the collagen triple helix. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this mutation is probably damaging to the protein structure/function. We interpret COL7A1 as a pathogenic variant.
Pathology and Clinical Laboratory Medicine,King Fahad Medical City RCV001261557 SCV001438822 pathogenic Recessive dystrophic epidermolysis bullosa criteria provided, single submitter clinical testing

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