Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000506118 | SCV000052192 | benign | not specified | 2021-12-23 | criteria provided, single submitter | clinical testing | Variant summary: CFTR c.4243-35delT is located at a position not widely known to affect splicing. 3/3 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00094 in 249034 control chromosomes in the gnomAD database, including 2 homozygotes. The variant, c.4243-35delT, has been reported in an individual affected with nontuberculous mycobacterial infection (Szymanski_2015, McCormack_2017), however this individual had a co-occurring potentially pathogenic variant (MPEG1 c.1192C>T (p.Gln398Ter)), which could explain the phenotype, thus providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three ClinVar submitters have assessed the variant since 2014: one classified the variant as likely benign and two as benign. Based on the evidence outlined above, the variant was classified as benign. |
ARUP Laboratories, |
RCV000506118 | SCV000603011 | benign | not specified | 2016-11-16 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001283972 | SCV001469504 | likely benign | not provided | 2020-04-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001514615 | SCV001722501 | benign | Cystic fibrosis | 2021-12-17 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002256008 | SCV002529728 | benign | Hereditary pancreatitis | 2020-08-10 | criteria provided, single submitter | curation |