ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.1402C>T (p.Arg468Cys)

gnomAD frequency: 0.00005  dbSNP: rs371154736
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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 RCV001323874 SCV001514809 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004978325 SCV005569433 uncertain significance Inborn genetic diseases 2024-09-09 criteria provided, single submitter clinical testing The c.1402C>T (p.R468C) alteration is located in exon 11 (coding exon 11) of the COL7A1 gene. This alteration results from a C to T substitution at nucleotide position 1402, causing the arginine (R) at amino acid position 468 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830982 SCV002079300 uncertain significance Epidermolysis bullosa dystrophica 2020-04-14 no assertion criteria provided clinical testing

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