ClinVar Miner

Submissions for variant NM_001193466.2(KANSL1):c.1783C>G (p.Pro595Ala) (rs947698008)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000733848 SCV000861949 uncertain significance not provided 2018-06-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV001328698 SCV001519873 uncertain significance Koolen-de Vries syndrome 2019-03-04 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001328698 SCV001557704 uncertain significance Koolen-de Vries syndrome 2020-05-27 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 595 of the KANSL1 protein (p.Pro595Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KANSL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 597666). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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.

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