ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.418C>T (p.Pro140Ser) (rs145900055)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000590469 SCV000704520 uncertain significance not provided 2017-10-11 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765922 SCV000897342 uncertain significance Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral absence of the vas deferens 2018-10-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590469 SCV000697011 uncertain significance not provided 2017-06-21 criteria provided, single submitter clinical testing Variant summary: The CFTR c.418C>T (p.Pro140Ser) variant involves the alteration of a conserved nucleotide, resulting in a missense change in the ABC transporter type 1, transmembrane domain (InterPro). 4/4 in silico tools predict damaging outcome for this variant. This variant was found in control population (including ExAC) at a frequency of 0.0000681 (9/132142 control chromosomes), which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). This variant was found in one patient with disseminated bronchiectasis (Sick Kids database) and one CF patient (Schrijver_2016) without strong evidence for or against pathogenicity. It has been classified in the literature as a variant of uncertain significance (Monaghan_2004; Audrezet_2008). One clinical diagnostic laboratory (in ClinVar) has reported identifying this variant, though a classification was not provided. Another missense change at the same residue (P140L) has been reported in association with CF in literature and/or clinical databases. Taken together, this variant is classified as VUS until additional information becomes available.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506712 SCV000601118 uncertain significance not specified 2017-01-10 criteria provided, single submitter clinical testing

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