ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3767C>T (p.Ala1256Val) (rs773852510)

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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 RCV000588431 SCV000696990 uncertain significance not provided 2016-04-25 criteria provided, single submitter clinical testing Variant summary: The c.3767C>T variant involves the alteration of a conserved nucleotide and 5/5 in silico tools predict a damaging outcome. The variant was observed in the large and broad cohorts of the ExAC project at an allele frequency of 0.002% which does not exceed the maximal expected allele frequency for a pathogenic variant in CFTR (1.3%). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories, nor evaluated for functional impact by in vivo/vitro studies. 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.

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