ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu) (rs746300545)

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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 RCV000175046 SCV000226473 uncertain significance not provided 2015-05-08 criteria provided, single submitter clinical testing
Invitae RCV000701169 SCV000829955 uncertain significance Joubert syndrome; Oral-facial-digital syndrome 2018-01-30 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 723 of the OFD1 protein (p.Ser723Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs746300545, ExAC 0.02%). This variant has not been reported in the literature in individuals with OFD1-related disease. ClinVar contains an entry for this variant (Variation ID: 194632). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; 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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