ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.6482A>C (p.His2161Pro)

dbSNP: rs1575701343
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810590 SCV000950805 uncertain significance Luscan-Lumish syndrome 2018-11-13 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 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"). This variant has not been reported in the literature in individuals with SETD2-related disease. This sequence change replaces histidine with proline at codon 2161 of the SETD2 protein (p.His2161Pro). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and proline.

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