ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.842T>C (p.Met281Thr) (rs397508802)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000588953 SCV000697047 uncertain significance not provided 2016-12-27 criteria provided, single submitter clinical testing Variant summary: The CFTR c.842T>C (p.Met281Thr) variant involves the alteration of a conserved nucleotide, which is located in the ABC transporter type 1, transmembrane domain (InterPro). 5/5 in silico tools predict a damaging outcome for this variant. This variant was found in 1/114146 control chromosomes at a frequency of 0.0000088, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). This variant has been reported in one patient with chronic pancreatitis however without strong evidence for causality. Taken together, this variant is classified as VUS until additional evidence becomes available.
Counsyl RCV000577667 SCV000793019 uncertain significance Cystic fibrosis 2017-07-25 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577667 SCV000679175 not provided Cystic fibrosis no assertion provided literature only

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