ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.2794G>A (p.Val932Met)

gnomAD frequency: 0.00003  dbSNP: rs761239910
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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 RCV003120067 SCV003796736 likely benign not provided 2024-02-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004750865 SCV005364307 uncertain significance COL7A1-related disorder 2024-08-27 no assertion criteria provided clinical testing The COL7A1 c.2794G>A variant is predicted to result in the amino acid substitution p.Val932Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0085% 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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