ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2490+19G>C (rs368353825)

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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 RCV000588858 SCV000696901 uncertain significance not provided 2016-09-07 criteria provided, single submitter clinical testing Variant summary: The CFTR c.2490+19G>C variant involves the alteration of a non-conserved intronic nucleotide. 2/5 splice prediction tools predict an impact on normal splicing. However, these predictions have yet to be confirmed by published functional studies. This variant was found in 3/108954 control chromosomes at a frequency of 0.0000275, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Because of the absence of clinical information and the lack of functional studies, the variant is currently classified as a variant of uncertain significance (VUS) until additional information becomes available.

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