ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.4951T>A (p.Ser1651Thr)

gnomAD frequency: 0.00003  dbSNP: rs144533190
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824115 SCV000964998 uncertain significance not provided 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 1594 of the SZT2 protein (p.Ser1594Thr). The serine residue is highly conserved and there is a small physicochemical difference between serine and threonine. This variant is present in population databases (rs144533190, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with SZT2-related conditions. 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"). 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.

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