ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.838A>G (p.Thr280Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003127437 SCV003804019 likely benign Autism spectrum disorder 2022-07-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004978769 SCV005563619 uncertain significance Inborn genetic diseases 2024-10-09 criteria provided, single submitter clinical testing The c.838A>G (p.T280A) alteration is located in exon 6 (coding exon 6) of the DEAF1 gene. This alteration results from a A to G substitution at nucleotide position 838, causing the threonine (T) at amino acid position 280 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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