ClinVar Miner

Submissions for variant NM_153704.5(TMEM67):c.1700A>G (p.Tyr567Cys) (rs148726767)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000262993 SCV000338567 uncertain significance not provided 2016-01-22 criteria provided, single submitter clinical testing
Invitae RCV000702895 SCV000831769 uncertain significance Joubert syndrome; Meckel-Gruber syndrome 2018-06-07 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 567 of the TMEM67 protein (p.Tyr567Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs148726767, ExAC 0.03%). This variant has not been reported in the literature in individuals with TMEM67-related disease. ClinVar contains an entry for this variant (Variation ID: 285516). 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: "Possibly 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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