ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.8245G>A (p.Gly2749Arg) (rs121912853)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001378411 SCV001575972 likely pathogenic not provided 2020-10-27 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 2749 of the COL7A1 protein (p.Gly2749Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs121912853, ExAC 0.009%). This variant has been observed in individual(s) with dystrophic epidermolysis bullosa (PMID: 8644729, 29473190, 29334134). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 17460). This variant has been reported to affect COL7A1 protein function (PMID: 18450758). 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.
OMIM RCV000019011 SCV000039298 pathogenic Recessive dystrophic epidermolysis bullosa 1996-04-01 no assertion criteria provided literature only

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