ClinVar Miner

Submissions for variant NM_020451.3(SELENON):c.608C>T (p.Thr203Ile)

gnomAD frequency: 0.00001  dbSNP: rs755740382
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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 RCV001346229 SCV001540410 uncertain significance Eichsfeld type congenital muscular dystrophy 2020-10-23 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 C15"). This variant has not been reported in the literature in individuals with SELENON-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces threonine with isoleucine at codon 203 of the SELENON protein (p.Thr203Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine.

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