ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2441C>G (p.Thr814Ser)

gnomAD frequency: 0.00007  dbSNP: rs757031050
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441779 SCV000532034 likely benign not specified 2016-09-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000551684 SCV000645047 benign Koolen-de Vries syndrome 2024-06-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243079 SCV003941437 uncertain significance Inborn genetic diseases 2023-04-10 criteria provided, single submitter clinical testing The c.2441C>G (p.T814S) alteration is located in exon 10 (coding exon 9) of the KANSL1 gene. This alteration results from a C to G substitution at nucleotide position 2441, causing the threonine (T) at amino acid position 814 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000551684 SCV005644110 uncertain significance Koolen-de Vries syndrome 2024-04-16 criteria provided, single submitter clinical testing

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