ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3053C>T (p.Thr1018Ile)

gnomAD frequency: 0.00006  dbSNP: rs145863194
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442828 SCV000535518 likely benign not specified 2018-02-22 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.
Invitae RCV000697747 SCV000826374 benign Koolen-de Vries syndrome 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000697747 SCV002802317 likely benign Koolen-de Vries syndrome 2022-04-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002525488 SCV003702137 likely benign Inborn genetic diseases 2022-03-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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