ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.432A>C (p.Glu144Asp)

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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 RCV002982935 SCV003295086 likely benign not provided 2023-12-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738650 SCV005363248 uncertain significance DEAF1-related disorder 2024-05-23 no assertion criteria provided clinical testing The DEAF1 c.432A>C variant is predicted to result in the amino acid substitution p.Glu144Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.032% of alleles in individuals of African 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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