ClinVar Miner

Submissions for variant NM_025215.6(PUS1):c.1226C>T (p.Thr409Met)

gnomAD frequency: 0.00010  dbSNP: rs761064906
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200486 SCV000252144 likely benign not specified 2015-08-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002515428 SCV003273631 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 409 of the PUS1 protein (p.Thr409Met). This variant is present in population databases (rs761064906, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PUS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 215041). 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"). 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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