ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.950T>C (p.Val317Ala) (rs1204521684)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000587831 SCV000697061 uncertain significance not provided 2016-04-12 criteria provided, single submitter clinical testing Variant summary: Variant affects a conserved nucleotide and results in a replacement of a medium size and hydrophobic Valine (V) with a small size and hydrophobic Alanine (A). 4/5 in silico tools predict the variant to be disease causing. The variant is absent from the large and broad cohorts of the ExAC project. It was observed in neonates with hypertrypsinaemia however without strong evidence for pathogenicity. Patch clamp studies have shown the variant to have a similar single channel conductance, rectification ratio, and thiocyanate permeability compared to wild-type (Ge_2004). Additionally, one internal specimen carries two CFTR pathogenic variants, suggesting the variant of interest is not the causitve mutation in this patient. Taken together, this variant has been classified as a VUS-possibly benign until more information becomes available.

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