ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.3710T>A (p.Phe1237Tyr)

gnomAD frequency: 0.00001  dbSNP: rs780705204
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001064530 SCV001229439 uncertain significance Luscan-Lumish syndrome 2022-02-10 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with tyrosine, which is neutral and polar, at codon 1237 of the SETD2 protein (p.Phe1237Tyr). This variant is present in population databases (rs780705204, gnomAD 0.005%). 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 858624). This variant has not been reported in the literature in individuals affected with SETD2-related conditions.

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