ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.4123C>A (p.His1375Asn) (rs146947665)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000047079 SCV000075092 uncertain significance Cystic fibrosis 2018-10-25 criteria provided, single submitter clinical testing This sequence change replaces histidine with asparagine at codon 1375 of the CFTR protein (p.His1375Asn). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and asparagine. This variant is present in population databases (rs146947665, ExAC 0.007%). This variant has been observed in an individual affected with chronic pancreatits and/or CFTR-related metabolic syndrome (PMID: 19202204, 23810505). . ClinVar contains an entry for this variant (Variation ID: 53894). 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 and their clinical significance is uncertain. 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.
Counsyl RCV000047079 SCV000795528 uncertain significance Cystic fibrosis 2017-11-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731229 SCV000859017 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing

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