ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1315C>T (p.Pro439Ser) (rs397508187)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000046271 SCV000074284 likely pathogenic Cystic fibrosis 2019-12-02 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 439 of the CFTR protein (p.Pro439Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with mild / atypical cystic fibrosis or congenital absence of the vas deferens (PMID: 15858154, 17413420). ClinVar contains an entry for this variant (Variation ID: 53226). Experimental studies have shown that this missense change interferes with protein maturation and localization to the cell membrane in cultured cells (PMID: 18769034). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Ambry Genetics RCV001010927 SCV001171192 uncertain significance Inborn genetic diseases 2019-08-08 criteria provided, single submitter clinical testing Insufficient evidence

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