ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.328G>T (p.Asp110Tyr) (rs113993958)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000508454 SCV000603068 likely pathogenic not specified 2017-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000508454 SCV001370734 uncertain significance not specified 2020-05-22 criteria provided, single submitter clinical testing Variant summary: CFTR c.328G>T (p.Asp110Tyr) results in a non-conservative amino acid change located in the ABC transporter type 1, transmembrane domain (IPR011527) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251100 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.328G>T has been reported in the literature in at-least one individual affected with Congenital Bilateral Absence Of The Vas Deferens (example, Casals_2000). However, another report of its presence in control subjects has also been reported (example Morea_2005). These data do not allow any conclusion about variant significance. Although, a role of residue Asp110 contributing to stabilize the architecture of the outer pore of CFTR by interactions with other charged residues has been reported (Cui_2014), to our knowledge, no variant specific experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as uncertain significance.
Nilou-Genome Lab RCV001705706 SCV001821990 likely pathogenic Cystic fibrosis 2021-07-22 criteria provided, single submitter clinical testing

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