ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.3617G>T (p.Gly1206Val)

dbSNP: rs1457309757
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814555 SCV000954968 uncertain significance not provided 2022-05-09 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 sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1149 of the SZT2 protein (p.Gly1149Val). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SZT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 657855).

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