ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5132C>T (p.Thr1711Ile)

gnomAD frequency: 0.00004  dbSNP: rs771521596
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001931303 SCV002205877 likely benign not provided 2024-08-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892974 SCV004717789 uncertain significance COL7A1-related disorder 2024-02-15 no assertion criteria provided clinical testing The COL7A1 c.5132C>T variant is predicted to result in the amino acid substitution p.Thr1711Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.017% of alleles in individuals of Latino descent in gnomAD . 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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