Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001175582 | SCV001339215 | uncertain significance | not specified | 2020-03-12 | criteria provided, single submitter | clinical testing | Variant summary: CFTR c.2936A>G (p.Asp979Gly) 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 251154 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2936A>G in individuals affected with Cystic Fibrosis and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Other variants affecting the same amino acid (i.e. c.2936A>C, p.Asp979Ala; c.2936A>T, p.Asp979Val) have been classified as pathogenic via internal testing and in ClinVar. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic. |
Natera, |
RCV001833736 | SCV002083564 | uncertain significance | CFTR-related disorders | 2019-09-09 | no assertion criteria provided | clinical testing |