ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.2993T>G (p.Val998Gly)

gnomAD frequency: 0.00001  dbSNP: rs769399537
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214855 SCV001386560 uncertain significance Luscan-Lumish syndrome 2019-08-12 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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. This variant has not been reported in the literature in individuals with SETD2-related conditions. This variant is present in population databases (rs769399537, ExAC 0.002%). This sequence change replaces valine with glycine at codon 998 of the SETD2 protein (p.Val998Gly). The valine residue is weakly conserved and there is a moderate physicochemical difference between valine and glycine.

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