ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2756A>G (p.Tyr919Cys) (rs397508430)

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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 RCV000734202 SCV000862326 uncertain significance not provided 2018-07-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781290 SCV000919203 uncertain significance not specified 2017-12-08 criteria provided, single submitter clinical testing Variant summary: The CFTR c.2756A>G (p.Tyr919Cys) variant involves the alteration of a conserved nucleotide and is located in ABC transporter type 1, transmembrane domain (InterPro). 5/5 in silico tools predict a damaging outcome for this variant. This variant was found in 19/246168 control chromosomes (gnomAD) at a frequency of 0.0000772, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). This variant has been reported in two CF patients in whom variant in other allele was unknown (Savov_1994, Kay_2015), and one of them also carried a truncating mutation on the same allele (Kay_2015). Taken together, this variant is currently classified as Variant of Uncertain Significance.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577265 SCV000679005 not provided Cystic fibrosis no assertion provided literature only

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