ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.72_89del (p.19VAAAAA[1])

dbSNP: rs781243390
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001837399 SCV002097981 uncertain significance Intellectual disability-epilepsy-extrapyramidal syndrome 2020-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542807 SCV003254847 uncertain significance not provided 2021-04-08 criteria provided, single submitter clinical testing This variant, c.72_89del, results in the deletion of 6 amino acid(s) of the DEAF1 protein (p.Val25_Ala30del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with DEAF1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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