ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.3131G>A (p.Ser1044Asn)

gnomAD frequency: 0.00001  dbSNP: rs587778673
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804532 SCV000944446 uncertain significance Luscan-Lumish syndrome 2020-02-21 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SETD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 135233). This variant is present in population databases (rs587778673, ExAC 0.001%). This sequence change replaces serine with asparagine at codon 1044 of the SETD2 protein (p.Ser1044Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine.
ITMI RCV000122045 SCV000086256 not provided not specified 2013-09-19 no assertion provided reference population

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