ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.910AAG[1] (p.Lys305del)

dbSNP: rs1554943158
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000515527 SCV000590957 likely pathogenic Intellectual disability, autosomal dominant 24 2017-08-17 criteria provided, single submitter clinical testing This variant has been observed once in our laboratory de novo in a 3-year-old female with central hypotonia, global delays, ataxia, seizure disorder, autism spectrum disorder. A de novo DYNC1H1 missense variant was also present.
Labcorp Genetics (formerly Invitae), Labcorp RCV005091120 SCV005835792 uncertain significance not provided 2024-02-29 criteria provided, single submitter clinical testing This variant, c.913_915del, results in the deletion of 1 amino acid(s) of the DEAF1 protein (p.Lys305del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of DEAF1-related conditions (PMID: 28940898). ClinVar contains an entry for this variant (Variation ID: 437397). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects DEAF1 function (PMID: 28940898). 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.
OMIM RCV000515527 SCV001334282 pathogenic Intellectual disability, autosomal dominant 24 2020-06-01 no assertion criteria provided literature only

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