ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2807C>T (p.Thr936Met)

gnomAD frequency: 0.00001  dbSNP: rs867665726
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001987571 SCV002224349 uncertain significance Koolen-de Vries syndrome 2022-08-16 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1443508). This variant has not been reported in the literature in individuals affected with KANSL1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 936 of the KANSL1 protein (p.Thr936Met).

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