ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1450C>T (p.His484Tyr) (rs397508210)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000046307 SCV000074320 uncertain significance Cystic fibrosis 2016-04-30 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 484 of the CFTR protein (p.His484Tyr). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is not present in population databases (rs397508210, ExAC no frequency). This variant has been reported in an individual with congenital absence of vas deferens (CAVD), but a second possibly causative variant was not identified (PMID: 10875853). The clinical relevance of this observation is uncertain. ClinVar contains an entry for this variant (Variation ID: 53257). 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 tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. While it is absent from the population and reported in affected individuals, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000595581 SCV000707884 uncertain significance not provided 2017-05-08 criteria provided, single submitter clinical testing
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000770984 SCV000897971 uncertain significance Hereditary pancreatitis 2018-04-27 criteria provided, single submitter clinical testing This recessive variant was identified in a patient with repetitive pancreatitis. The patient harbours also a second variant (see below) in this gene in compound heterozygosity

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