ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.571T>G (p.Phe191Val) (rs141482808)

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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 RCV000587145 SCV000700410 likely pathogenic not provided 2017-04-21 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587145 SCV000697035 uncertain significance not provided 2016-08-09 criteria provided, single submitter clinical testing Variant summary: The CFTR c.571T>G (p.Phe191Val) variant involves the alteration of a conserved nucleotide. 4/5 in silico tools predict a damaging outcome for this variant. This variant was found in 1/118270 control chromosomes at a frequency of 0.0000085, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). This variant has been reported in multiple affected individuals including one non-classic CF patient (Groman_2002) and CF patients without clinical information (Schrijver_2016). The variant of interest has not, to our knowledge, been reported via clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly pathogenic until more information becomes available.
Mendelics RCV000757856 SCV000886367 uncertain significance Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing

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