ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.4056G>T (p.Gln1352His) (rs113857788)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029537 SCV000052189 likely pathogenic Congenital bilateral absence of the vas deferens 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757090 SCV000885195 likely pathogenic not provided 2017-11-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000757090 SCV000888094 uncertain significance not provided 2018-05-11 criteria provided, single submitter clinical testing
Invitae RCV000808411 SCV000948520 pathogenic Cystic fibrosis 2018-12-26 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 1352 of the CFTR protein (p.Gln1352His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is present in population databases (rs113857788, ExAC 0.04%). This variant has been observed in individuals with congenital bilateral absence of vas deferens (PMID: 28603918, 9239681, 9272157). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. The variant has also been observed in individuals with chronic pancreatitis and asthma (PMID: 16187186, 15121783, 25492507, 16678503). ClinVar contains an entry for this variant (Variation ID: 35882). This variant has been reported to affect the CFTR protein function (PMID:12952861). For these reasons, this variant has been classified as Pathogenic.

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