ClinVar Miner

Submissions for variant NM_000751.3(CHRND):c.727C>T (p.Arg243Cys) (rs201733876)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000285578 SCV000335058 uncertain significance not provided 2015-09-19 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764380 SCV000895432 uncertain significance Lethal multiple pterygium syndrome; Myasthenic syndrome, congenital, 3a, slow-channel; Myasthenic syndrome, congenital, 3b, fast-channel; Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386837 SCV000428415 uncertain significance Multiple pterygium syndrome Escobar type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295199 SCV000428416 uncertain significance Congenital Myasthenic Syndrome, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000526402 SCV000641734 uncertain significance Lethal multiple pterygium syndrome 2018-11-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 243 of the CHRND protein (p.Arg243Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs201733876, ExAC 0.04%). This variant has not been reported in the literature in individuals with a CHRND-related disease. ClinVar contains an entry for this variant (Variation ID: 283138). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on CHRND function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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