ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.3364C>T (p.Arg1122Cys)

gnomAD frequency: 0.00003  dbSNP: rs775695539
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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 RCV003065803 SCV003458265 likely benign not provided 2024-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003250734 SCV003950301 uncertain significance Inborn genetic diseases 2023-06-06 criteria provided, single submitter clinical testing The c.3364C>T (p.R1122C) alteration is located in exon 25 (coding exon 25) of the COL7A1 gene. This alteration results from a C to T substitution at nucleotide position 3364, causing the arginine (R) at amino acid position 1122 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003420317 SCV004116096 uncertain significance COL7A1-related disorder 2023-04-07 criteria provided, single submitter clinical testing The COL7A1 c.3364C>T variant is predicted to result in the amino acid substitution p.Arg1122Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0080% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-48624035-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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