ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.4091C>T (p.Ala1364Val) (rs397508670)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000576913 SCV000796159 uncertain significance Cystic fibrosis 2017-12-04 criteria provided, single submitter clinical testing
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000761478 SCV000891591 uncertain significance Hereditary pancreatitis 2017-12-30 criteria provided, single submitter curation
Integrated Genetics/Laboratory Corporation of America RCV000781271 SCV000919183 uncertain significance not specified 2017-10-12 criteria provided, single submitter clinical testing Variant summary: The CFTR c.4091C>T (p.Ala1364Val) variant involves the alteration of a conserved nucleotide. 5/5 in silico tools predict a damaging outcome for this variant. 5/5 programs in Alamut predict that this variant generates a cryptic splicing donor site. However, these in silico predictions have not been validated by experimental studies yet. This variant was found in 9/246784 control chromosomes at a frequency of 0.0000365, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). This variant has been reported in one CBAVD patient with F508del in trans (de Meeus_1997). Taken together, because of the lack of clinical information and the absence of functional studies to support pathogenicity, this variant is classified as Variant of Unknown Significance until additional information becomes available.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000576913 SCV000679397 not provided Cystic fibrosis no assertion provided literature only

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