ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1135G>T (p.Glu379Ter) (rs397508165)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665109 SCV000789175 likely pathogenic Cystic fibrosis 2017-01-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781223 SCV000919127 likely pathogenic not specified 2017-10-23 criteria provided, single submitter clinical testing Variant summary: The CFTR c.1135G>T (p.Glu379X) variant results in a premature termination codon, predicted to cause a truncated or absent CFTR protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.1327_1330dupGATA, p.Ile444fsX3; c.1340delA, p.Lys447fsX2; c.1365_1366delGG, p.Val456fsX25). One in silico tool predicts a damaging outcome for this variant. This variant was found in 1/245610 control chromosomes at a frequency of 0.0000041, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). The variant has been reported in the literature/databases in at least two affected individuals (Lucarelli_2015, SickKids database). Taken together, this variant is classified as likely pathogenic.

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