ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.2545G>A (p.Gly849Arg)

gnomAD frequency: 0.00002  dbSNP: rs367797946
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001299636 SCV001488738 likely benign not provided 2024-02-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004036143 SCV004930018 uncertain significance Inborn genetic diseases 2023-12-13 criteria provided, single submitter clinical testing The c.2545G>A (p.G849R) alteration is located in exon 19 (coding exon 19) of the COL7A1 gene. This alteration results from a G to A substitution at nucleotide position 2545, causing the glycine (G) at amino acid position 849 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001836266 SCV002079285 uncertain significance Epidermolysis bullosa dystrophica 2020-02-06 no assertion criteria provided clinical testing

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