ClinVar Miner

Submissions for variant NM_000751.3(CHRND):c.1400G>A (p.Arg467His) (rs148939701)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174260 SCV000225535 benign not specified 2014-12-12 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000174260 SCV000305496 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000530315 SCV000641723 uncertain significance Lethal multiple pterygium syndrome 2018-12-07 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 467 of the CHRND protein (p.Arg467His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs148939701, ExAC 0.2%). This variant has not been reported in the literature in individuals with CHRND-related disease. ClinVar contains an entry for this variant (Variation ID: 194006). 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: "Tolerated"; PolyPhen-2: "Probably 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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