ClinVar Miner

Submissions for variant NM_182643.3(DLC1):c.112G>A (p.Asp38Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005040760 SCV005680136 uncertain significance Colorectal cancer 2024-01-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004730713 SCV005339487 uncertain significance DLC1-related disorder 2024-06-03 no assertion criteria provided clinical testing The DLC1 c.112G>A variant is predicted to result in the amino acid substitution p.Asp38Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% 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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