ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2111C>T (p.Ser704Leu)

gnomAD frequency: 0.00002  dbSNP: rs762407803
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001518934 SCV001727714 benign Koolen-de Vries syndrome 2023-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV003339661 SCV004058750 uncertain significance Inborn genetic diseases 2023-06-30 criteria provided, single submitter clinical testing The c.2111C>T (p.S704L) alteration is located in exon 8 (coding exon 7) of the KANSL1 gene. This alteration results from a C to T substitution at nucleotide position 2111, causing the serine (S) at amino acid position 704 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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