ClinVar Miner

Submissions for variant NM_016464.5(TMEM138):c.74A>G (p.Asn25Ser) (rs775913576)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499948 SCV000597498 uncertain significance not specified 2015-09-28 criteria provided, single submitter clinical testing
Invitae RCV000812896 SCV000953226 uncertain significance Joubert syndrome 16 2018-12-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 25 of the TMEM138 protein (p.Asn25Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs775913576, ExAC 0.01%). This variant has not been reported in the literature in individuals with TMEM138-related conditions. ClinVar contains an entry for this variant (Variation ID: 437008). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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