ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.3769A>T (p.Asn1257Tyr)

gnomAD frequency: 0.00001  dbSNP: rs750887950
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000794700 SCV000934125 uncertain significance Luscan-Lumish syndrome 2020-10-01 criteria provided, single submitter clinical testing 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with SETD2-related disease. This variant is present in population databases (rs750887950, ExAC 0.001%). This sequence change replaces asparagine with tyrosine at codon 1257 of the SETD2 protein (p.Asn1257Tyr). The asparagine residue is moderately conserved and there is a large physicochemical difference between asparagine and tyrosine.

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