ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.4061T>C (p.Met1354Thr) (rs755993775)

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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 RCV000588556 SCV000697004 uncertain significance not provided 2016-05-05 criteria provided, single submitter clinical testing Variant summary: The c.4061T>C variant affects a conserved nucleotide, resulting in amino acid change from Met to Thr. 4/5 in-silico tools predict this variant to be damaging. This variant is found in 6/121354 control chromosomes at a frequency of 0.0000494, which does not exceed maximal expected frequency of a pathogenic allele (0.0129603). 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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