ClinVar Miner

Submissions for variant NM_001039469.3(MARK2):c.1888dup (p.Ala630fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004787139 SCV005401668 uncertain significance not provided 2023-12-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Frameshift variant predicted to result in abnormal protein length as the last 159 amino acids are replaced with 28 different amino acids in a gene for which loss-of-function is not an established mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (PMID: 25741868)
Department of Medical Genetics, Capital Institute of Pediatrics RCV004593565 SCV005081712 pathogenic Autism spectrum disorder 2024-07-03 no assertion criteria provided research PVS1+PM2_Supporting+PS2

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