ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2392C>T (p.Pro798Ser) (rs138069616)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000587025 SCV000696897 uncertain significance not provided 2016-06-02 criteria provided, single submitter clinical testing Variant summary: The CFTR c.2392C>T (p.Pro798Ser) variant involves the alteration of a conserved nucleotide. 3/5 in silico tools predict a damaging outcome. This variant is absent in 110516 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. The variant was detected in an internal specimen in cis with R74W, D1270N, and G921E (paternal allele, all variants classified as VUS) in a case and their affected sibling (who had F508del in trans). This multi-variant allele may represent a disease haplotype but there are not enough data to support this at this time. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000587025 SCV000700434 uncertain significance not provided 2017-01-27 criteria provided, single submitter clinical testing

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