ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2406C>A (p.His802Gln)

gnomAD frequency: 0.00002  dbSNP: rs773681267
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803522 SCV000943400 benign Koolen-de Vries syndrome 2023-08-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000803522 SCV002799689 uncertain significance Koolen-de Vries syndrome 2024-06-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534750 SCV003730841 uncertain significance Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing The c.2406C>A (p.H802Q) alteration is located in exon 10 (coding exon 9) of the KANSL1 gene. This alteration results from a C to A substitution at nucleotide position 2406, causing the histidine (H) at amino acid position 802 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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