ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.1324C>T (p.Arg442Cys)

gnomAD frequency: 0.00004  dbSNP: rs142108058
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001300729 SCV001489878 likely benign not provided 2024-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002542913 SCV003551035 uncertain significance Inborn genetic diseases 2021-07-28 criteria provided, single submitter clinical testing The c.1324C>T (p.R442C) alteration is located in exon 10 (coding exon 10) of the COL7A1 gene. This alteration results from a C to T substitution at nucleotide position 1324, causing the arginine (R) at amino acid position 442 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV001300729 SCV005189504 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001278986 SCV001466041 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-08-25 no assertion criteria provided clinical testing

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