ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1934T>A (p.Met645Lys) (rs377731410)

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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 RCV000589999 SCV000696879 uncertain significance not provided 2016-11-07 criteria provided, single submitter clinical testing Variant summary: The CFTR c.1934T>A (p.Met645Lys) variant located in the CFTR regulator domain (via InterPro) causes a missense change involving a conserved nucleotide with 3/5 in silico tools predict a damaging outcome, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 2/120550 (1/60275), which does not exceed the estimated maximal expected allele frequency for a pathogenic CFTR variant of 1/159. In literature, the variant has been reported in one patient with CFTR-related disorder in heterozygous state (Trujillano_2013), however, with limited information (ie lack of co-occurrence and cosegregation data), in addition, the variant as not been reported by clinical diagnostic laboratories. Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)."

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