ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.454A>G (p.Met152Val) (rs397508721)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000577102 SCV000697027 pathogenic Cystic fibrosis 2016-02-01 criteria provided, single submitter clinical testing Variant summary: This c.454A>G variant affects a conserved nucleotide, resulting in amino acid change from Met to Val. 2/5 in-silico tools predict this variant to be damaging. 5/5 programs via Alamut predict that this variant affects normal splicing by activating cryptic splice donor site. The prediction results were proven by a Ex vivo minigene assay that this variant deletes the last 36 bps from the exon 4 by the activation of the cryptic splice site (Raynal_2013). This variant was found in 2/115850 control chromosomes including ExAC at a frequency of 0.0000173, which does not exceed the maximal expected frequency of a pathogenic allele (0.0129603) in this gene. This variant has been found in multiple CF patients, including homozygous (n=3) and compound heterozygous (n=1) patients. Taken together, this variant has been classified as a Pathogenic.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577102 SCV000679156 not provided Cystic fibrosis no assertion provided literature only

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